Article
MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.
Hepatology (Baltimore, Md.) - 1 Jan 2017
Gonzales Emmanuel, Taylor Sarah A, Davit-Spraul Anne, Thébaut Alice, Thomassin Nadège, Guettier Catherine, Whitington Peter F, Jacquemin Emmanuel
Abstract excerpt
Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity. So far MYO5B deficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Using a new-generation sequencing approach,...
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