Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)

Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)

We report two Omani brothers with intrahepatic cholestasis that resolved with supportive care. In one, cholestasis began in infancy; in the other, only at the age of 18 months. Whole exome sequencing identified a novel homozygous variant, c.379C>G (p.L127V) in ATP8B1. Those attending patients wit...

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Bibliographic Details
Main Authors: Hassib Narchi, Suhailah Alhefeiti, Fatmah Althabahi, Jozef Hertecant, A S Knisely, Abdul-Kader Souid
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2017-01-01
Series:The Saudi Journal of Gastroenterology
Subjects:
ATP8B1
benign recurrent intrahepatic cholestasis
progressive familial intrahepatic cholestasis
whole exome sequencing
Online Access:http://www.saudijgastro.com/article.asp?issn=1319-3767;year=2017;volume=23;issue=5;spage=303;epage=305;aulast=Narchi

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http://www.saudijgastro.com/article.asp?issn=1319-3767;year=2017;volume=23;issue=5;spage=303;epage=305;aulast=Narchi

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