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Laura Bull, PhD

Title(s)Professor, Medicine
SchoolSchool of Medicine
Phone415-502-0744
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    Collapse Biography 
    Collapse Education and Training
    University of California, San FranciscoPh.D.1993 Graduate Division (Biochemistry)

    Collapse Overview 
    Collapse Overview
    The research in my laboratory occurs at the interface of genetics and hepatology. We identify and study genetic factors contributing to development of cholestatic liver disease in people and mouse models.

    Collapse Research 
    Collapse Research Activities and Funding
    The Genetic Basis of Pediatric Cholestasis
    NIH/NIDDK R01DK094828Sep 24, 2012 - Aug 31, 2020
    Role: Principal Investigator
    The Genetic Basis of Pediatric Cholestasis
    NIH/NIDDK R56DK094828Sep 24, 2012 - Aug 31, 2014
    Role: Principal Investigator
    The Genetic Basis of Hereditary Liver Disease
    NIH/NIDDK R01DK058214Jul 1, 2000 - Jun 30, 2014
    Role: Principal Investigator
    The Genetic Basis of Cholestasis
    NIH/NIDDK R56DK050697Feb 1, 1996 - Aug 31, 2013
    Role: Principal Investigator
    The Genetic Basis of Cholestasis
    NIH/NIDDK R01DK050697Feb 1, 1996 - Apr 30, 2011
    Role: Principal Investigator
    LINKAGE DISEQUILIBRIUM MAPPING OF BIPOLAR DISORDER
    NIH/NIMH F32MH011128Nov 9, 1995
    Role: Principal Investigator
    Bio-Organic Biomedical Mass Spectrometry Resource
    NIH P41RR001614Mar 1, 1982 - May 31, 2015
    Role: Co-Investigator

    Collapse ORNG Applications 
    Collapse Websites

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
    List All   |   Timeline
    1. Ovadia C, Seed PT, Sklavounos A, Geenes V, Di Ilio C, Chambers J, Kohari K, Bacq Y, Bozkurt N, Brun-Furrer R, Bull L, Estiú MC, Grymowicz M, Gunaydin B, Hague WM, Haslinger C, Hu Y, Kawakita T, Kebapcilar AG, Kebapcilar L, Kondrackiene J, Koster MPH, Kowalska-Kanka A, Kupcinskas L, Lee RH, Locatelli A, Macias RIR, Marschall HU, Oudijk MA, Raz Y, Rimon E, Shan D, Shao Y, Tribe R, Tripodi V, Yayla Abide C, Yenidede I, Thornton JG, Chappell LC, Williamson C. Association of adverse perinatal outcomes of intrahepatic cholestasis of pregnancy with biochemical markers: results of aggregate and individual patient data meta-analyses. Lancet. 2019 03 02; 393(10174):899-909. PMID: 30773280.
      View in: PubMed
    2. Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, Guthery SL, Moore B, Yandell M, Harpavat S, Magee JC, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Alonso EM, Rosenthal P, Squires RH, Wang KS, Finegold MJ, Russo P, Sherker AH, Sokol RJ, Karpen SJ. Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. Hepatology. 2019 Jan 21. PMID: 30664273.
      View in: PubMed
    3. Bull LN, Thompson RJ. Progressive Familial Intrahepatic Cholestasis. Clin Liver Dis. 2018 11; 22(4):657-669. PMID: 30266155.
      View in: PubMed
    4. Bull LN, Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Dodge JL, Emerick K, Wanty C, Wali S, Blanchard S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Houwen R, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Sokal E, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ. Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies. Hepatol Commun. 2018 May; 2(5):515-528. PMID: 29761168.
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    5. Wang KS, Tiao G, Bass LM, Hertel PM, Mogul D, Kerkar N, Clifton M, Azen C, Bull L, Rosenthal P, Stewart D, Superina R, Arnon R, Bozic M, Brandt ML, Dillon PA, Fecteau A, Iyer K, Kamath B, Karpen S, Karrer F, Loomes KM, Mack C, Mattei P, Miethke A, Soltys K, Turmelle YP, West K, Zagory J, Goodhue C, Shneider BL. Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasis. Hepatology. 2017 05; 65(5):1645-1654. PMID: 28027587.
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    6. Grammatikopoulos T, Sambrotta M, Strautnieks S, Foskett P, Knisely AS, Wagner B, Deheragoda M, Starling C, Mieli-Vergani G, Smith J, Bull L, Thompson RJ. Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. J Hepatol. 2016 12; 65(6):1179-1187. PMID: 27469900.
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    7. de Waart DR, Naik J, Utsunomiya KS, Duijst S, Ho-Mok K, Bolier AR, Hiralall J, Bull LN, Bosma PJ, Oude Elferink RP, Paulusma CC. ATP11C targets basolateral bile salt transporter proteins in mouse central hepatocytes. Hepatology. 2016 07; 64(1):161-74. PMID: 26926206.
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    8. Bull LN, Hu D, Shah S, Temple L, Silva K, Huntsman S, Melgar J, Geiser MT, Sanford U, Ortiz JA, Lee RH, Kusanovic JP, Ziv E, Vargas JE. Intrahepatic Cholestasis of Pregnancy (ICP) in U.S. Latinas and Chileans: Clinical features, Ancestry Analysis, and Admixture Mapping. PLoS One. 2015; 10(6):e0131211. PMID: 26126184; PMCID: PMC4488338.
    9. Thompson RJ, Bull LN. Treating genetic disease: Expanding the options. Hepatology. 2015 Aug; 62(2):349-51. PMID: 25820708.
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    10. Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G, Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet. 2014 Apr; 46(4):326-8. PMID: 24614073; PMCID: PMC4061468.
    11. Bull LN, Vargas J. Serum bile acids in intrahepatic cholestasis of pregnancy: not just a diagnostic test. Hepatology. 2014 Apr; 59(4):1220-2. PMID: 24123247; PMCID: PMC4370293.
    12. Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN. CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. PLoS One. 2013; 8(9):e75770. PMID: 24086631; PMCID: PMC3784396.
    13. Setchell KD, Heubi JE, Shah S, Lavine JE, Suskind D, Al-Edreesi M, Potter C, Russell DW, O'Connell NC, Wolfe B, Jha P, Zhang W, Bove KE, Knisely AS, Hofmann AF, Rosenthal P, Bull LN. Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. Gastroenterology. 2013 May; 144(5):945-955.e6; quiz e14-5. PMID: 23415802.
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    14. Hadžic N, Bull LN, Clayton PT, Knisely AS. Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency. World J Gastroenterol. 2012 Jul 07; 18(25):3322-6. PMID: 22783059; PMCID: PMC3391772.
    15. Rook M, Vargas J, Caughey A, Bacchetti P, Rosenthal P, Bull L. Fetal outcomes in pregnancies complicated by intrahepatic cholestasis of pregnancy in a Northern California cohort. PLoS One. 2012; 7(3):e28343. PMID: 22403605; PMCID: PMC3293870.
    16. Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol. 2010 Jul; 53(1):170-8. PMID: 20447715; PMCID: PMC3042805.
    17. Shah S, Sanford UR, Vargas JC, Xu H, Groen A, Paulusma CC, Grenert JP, Pawlikowska L, Sen S, Elferink RP, Bull LN. Strain background modifies phenotypes in the ATP8B1-deficient mouse. PLoS One. 2010 Feb 01; 5(2):e8984. PMID: 20126555; PMCID: PMC2813882.
    18. Stapelbroek JM, Peters TA, van Beurden DH, Curfs JH, Joosten A, Beynon AJ, van Leeuwen BM, van der Velden LM, Bull L, Oude Elferink RP, van Zanten BA, Klomp LW, Houwen RH. ATP8B1 is essential for maintaining normal hearing. Proc Natl Acad Sci U S A. 2009 Jun 16; 106(24):9709-14. PMID: 19478059; PMCID: PMC2700994.
    19. Emerick KM, Elias MS, Melin-Aldana H, Strautnieks S, Thompson RJ, Bull LN, Knisely As, Whitington PF, Green RM. Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion. BMC Gastroenterol. 2008 Oct 20; 8:47. PMID: 18937870; PMCID: PMC2585081.
    20. Groen A, Kunne C, Jongsma G, van den Oever K, Mok KS, Petruzzelli M, Vrins CL, Bull L, Paulusma CC, Oude Elferink RP. Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice. Gastroenterology. 2008 Jun; 134(7):2091-100. PMID: 18466903.
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    21. Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozçay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Németh A, Kotalová R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawlowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology. 2008 Apr; 134(4):1203-14. PMID: 18395098.
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    22. Groen A, Kunne C, Paulusma CC, Kramer W, Agellon LB, Bull LN, Oude Elferink RP. Intestinal bile salt absorption in Atp8b1 deficient mice. J Hepatol. 2007 Jul; 47(1):114-22. PMID: 17448567.
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    23. Walkowiak J, Jankowska I, Pawlowska J, Bull L, Herzig KH, Socha J. Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1. Scand J Gastroenterol. 2006 Dec; 41(12):1480-3. PMID: 17101580.
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    24. Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, Bull LN, Pawlikowska L, Bilezikçi B, Ozçay F, László A, Tiszlavicz L, Moore L, Raftos J, Arnell H, Fischler B, Németh A, Papadogiannakis N, Cielecka-Kuszyk J, Jankowska I, Pawlowska J, Melín-Aldana H, Emerick KM, Whitington PF, Mieli-Vergani G, Thompson RJ. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology. 2006 Aug; 44(2):478-86. PMID: 16871584.
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    25. Paulusma CC, Groen A, Kunne C, Ho-Mok KS, Spijkerboer AL, Rudi de Waart D, Hoek FJ, Vreeling H, Hoeben KA, van Marle J, Pawlikowska L, Bull LN, Hofmann AF, Knisely AS, Oude Elferink RP. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Hepatology. 2006 Jul; 44(1):195-204. PMID: 16799980.
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    26. Walkowiak J, Jankowska I, Pawlowska J, Strautnieks S, Bull L, Thompson R, Herzig KH, Socha J. Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2. J Pediatr Gastroenterol Nutr. 2006 Apr; 42(4):416-8. PMID: 16641580.
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    27. Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS. VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. J Pediatr. 2006 Feb; 148(2):269-71. PMID: 16492441.
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    28. van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology. 2004 Aug; 127(2):379-84. PMID: 15300568.
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    29. Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology. 2004 Jul; 40(1):27-38. PMID: 15239083.
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    30. Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull LN, Knisely AS, Strautnieks SS, Thompson RJ, Magid MS, Gordon R, Balasubramanian N, Suchy FJ, Shneider BL. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology. 2004 Mar; 126(3):756-64. PMID: 14988830.
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    31. Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Elferink RP, Freimer NB. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet. 2004 Apr 15; 13(8):881-92. PMID: 14976163.
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    32. Carlton VE, Pawlikowska L, Bull LN. Molecular basis of intrahepatic cholestasis. Ann Med. 2004; 36(8):606-17. PMID: 15768832.
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    33. Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 2003 May; 34(1):91-6. PMID: 12704386.
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    34. Frühwirth M, Janecke AR, Müller T, Carlton VE, Kronenberg F, Offner F, Knisely AS, Geleff S, Song EJ, Simma B, Königsrainer A, Margreiter R, van der Hagen CB, Eiklid K, Aagenaes O, Bull L, Ellemunter H. Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome. J Pediatr. 2003 Apr; 142(4):441-7. PMID: 12712065.
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    35. Bull LN. Hereditary forms of intrahepatic cholestasis. Curr Opin Genet Dev. 2002 Jun; 12(3):336-42. PMID: 12076678.
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    36. van Mil SW, Klomp LW, Bull LN, Houwen RH. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis. 2001 Nov; 21(4):535-44. PMID: 11745041.
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    37. Klomp LW, Bull LN, Knisely AS, van Der Doelen MA, Juijn JA, Berger R, Forget S, Nielsen IM, Eiberg H, Houwen RH. A missense mutation in FIC1 is associated with greenland familial cholestasis. Hepatology. 2000 Dec; 32(6):1337-41. PMID: 11093741.
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    38. Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, van Der Hagen CB, Eiklid K, Aagenaes O, Freimer NB. Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. Am J Hum Genet. 2000 Oct; 67(4):994-9. PMID: 10968776; PMCID: PMC1287903.
    39. Morton DH, Salen G, Batta AK, Shefer S, Tint GS, Belchis D, Shneider B, Puffenberger E, Bull L, Knisely AS. Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. Gastroenterology. 2000 Jul; 119(1):188-95. PMID: 10889168.
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    40. Bull LN, Pabón-Peña CR, Freimer NB. Compound microsatellite repeats: practical and theoretical features. Genome Res. 1999 Sep; 9(9):830-8. PMID: 10508841; PMCID: PMC310808.
    41. Steig B, Juijn JA, Bull LN, Houwen RH, Tygstrup N. [Recurrent familial intrahepatic cholestasis in the Faroe Islands]. Ugeskr Laeger. 1999 Aug 30; 161(35):4871-4. PMID: 10778315.
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    42. Bull LN, Juijn JA, Liao M, van Eijk MJ, Sinke RJ, Stricker NL, DeYoung JA, Carlton VE, Baharloo S, Klomp LW, Abukawa D, Barton DE, Bass NM, Bourke B, Drumm B, Jankowska I, Lovisetto P, McQuaid S, Pawlowska J, Tazawa Y, Villa E, Tygstrup N, Berger R, Knisely AS, Freimer NB. Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC. Hum Genet. 1999 Mar; 104(3):241-8. PMID: 10323248.
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    43. Tygstrup N, Steig BA, Juijn JA, Bull LN, Houwen RH. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. Hepatology. 1999 Feb; 29(2):506-8. PMID: 9918928.
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    44. Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998 Nov; 20(3):233-8. PMID: 9806540.
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    45. Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet. 1998 Mar; 18(3):219-24. PMID: 9500542.
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    46. Strautnieks SS, Kagalwalla AF, Tanner MS, Knisely AS, Bull L, Freimer N, Kocoshis SA, Gardiner RM, Thompson RJ. Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. Am J Hum Genet. 1997 Sep; 61(3):630-3. PMID: 9326328.
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    47. Sinke RJ, Carlton VE, Juijn JA, Delhaas T, Bull L, van Berge Henegouwen GP, van Hattum J, Keller KM, Sinaasappel M, Bijleveld CM, Knol IE, Ploos van Amstel HK, Pearson PL, Berger R, Freimer NB, Houwen RH. Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64. Hum Genet. 1997 Sep; 100(3-4):382-7. PMID: 9272159.
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    48. Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E, Markowitz J, DiCarlo FJ, McLoughlin L, Boyle JT, Dahms BB, Faught PR, Fitzgerald JF, Piccoli DA, Witzleben CL, O'Connell NC, Setchell KD, Agostini RM, Kocoshis SA, Reyes J, Knisely AS. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology. 1997 Jul; 26(1):155-64. PMID: 9214465.
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    49. Sela-Herman S, Bull L, Lomri N, Rahmaoui C, Luther T, Hammerman P, Genant J, Freimer N, Scharschmidt B. In search of a gene for hereditary cholestasis. Biochem Mol Med. 1996 Dec; 59(2):98-103. PMID: 8986630.
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    50. Bull LN, Hewitt JE, Cox DR, Myers RM. Sensitivity of HincII to CpG methylation. Nucleic Acids Res. 1993 Apr 25; 21(8):2021. PMID: 8493118.
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    51. Pritchard C, Zhu N, Zuo J, Bull L, Pericak-Vance MA, Vance JM, Roses AD, Milatovich A, Francke U, Cox DR. Recombination of 4p16 DNA markers in an unusual family with Huntington disease. Am J Hum Genet. 1992 Jun; 50(6):1218-30. PMID: 1350884.
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    52. Pritchard C, Casher D, Bull L, Cox DR, Myers RM. A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patients. Proc Natl Acad Sci U S A. 1990 Sep; 87(18):7309-13. PMID: 2144903.
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