Article
Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V).
Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association - 1 Jan 2000
Narchi Hassib, Alhefeiti Suhailah, Althabahi Fatmah, Hertecant Jozef, Knisely A S, Souid Abdul-Kader
Abstract excerpt
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 with cholestasis from the Arabian peninsula should be aware of this mutation and of the variation in its phenotypic effects.
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