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A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
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. Strautnieks SS, et al. Among authors: bull ln. Nat Genet. 1998 Nov;20(3):233-8. doi: 10.1038/3034. Nat Genet. 1998. PMID: 9806540
Progressive Familial Intrahepatic Cholestasis.
Bull LN, Thompson RJ. Bull LN, et al. Clin Liver Dis. 2018 Nov;22(4):657-669. doi: 10.1016/j.cld.2018.06.003. Epub 2018 Aug 3. Clin Liver Dis. 2018. PMID: 30266155 Review.
Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity.
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 Jr, Kocoshis SA, Reyes J, Knisely AS. Bull LN, et al. Hepatology. 1997 Jul;26(1):155-64. doi: 10.1002/hep.510260121. Hepatology. 1997. PMID: 9214465
Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.
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, et al. Bull LN, et al. Hum Genet. 1999 Mar;104(3):241-8. doi: 10.1007/pl00008714. Hum Genet. 1999. PMID: 10323248
Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.
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. Sinke RJ, et al. Among authors: bull l. Hum Genet. 1997 Sep;100(3-4):382-7. doi: 10.1007/s004390050520. Hum Genet. 1997. PMID: 9272159 Free article.
229 results