Ontology highlight
ABSTRACT:
SUBMITTER: Sun HZ
PROVIDER: S-EPMC4292307 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Sun Hao-Zhe HZ Shi Hong H Zhang Shun-Cai SC Shen Xi-Zhong XZ
World journal of gastroenterology 20150101 2
Genotyping is conclusive for the diagnosis of progressive familial intrahepatic cholestasis type 3 (PFIC3). Here we report a Chinese patient of PFIC3 with compound mutations in the ABCB4 gene. Liver biopsy was performed on a 17-year-old male patient with intrahepatic cholestasis of unknown etiology. Liver histology findings are indicative of intrahepatic cholestasis with extensive fibrosis. Genotyping revealed c.175C>T (p.L59L) mutation in exon 4, c.504C>T (p.N168N) mutation in exon 6, c.711A>T ...[more]