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Saudi J Gastroenterol ; 23(5): 303-305, 2017.
Article in English | MEDLINE | ID: mdl-28937026

ABSTRACT

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.


Subject(s)
Adenosine Triphosphatases/genetics , Cholestasis, Intrahepatic/genetics , Exome Sequencing/methods , Mutation , Adolescent , Cholestasis, Intrahepatic/pathology , Cholestasis, Intrahepatic/therapy , Humans , Infant , Liver/pathology , Male , Oman/epidemiology , Phenotype , Siblings , Treatment Outcome , Ursodeoxycholic Acid/therapeutic use , Vitamins/therapeutic use
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