A Rare Nonsense Mutation in the Glucokinase Regulator Gene Is Associated With a Rapidly Progressive Clinical Form of Nonalcoholic Steatohepatitis

A Rare Nonsense Mutation in the Glucokinase Regulator Gene Is Associated With a Rapidly Progressive Clinical Form of Nonalcoholic Steatohepatitis

We report on the presence of a rare nonsense mutation (rs149847328, p.Arg227Ter) in the glucokinase regulator (GCKR) gene in an adult patient with nonalcoholic fatty liver disease (NAFLD), morbid obesity, and type 2 diabetes; this patient developed a progressive histological form of the disease. Ana...

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Bibliographic Details
Main Authors: Carlos J. Pirola, Diego Flichman, Hernán Dopazo, Tomas Fernández Gianotti, Julio San Martino, Cristian Rohr, Martin Garaycoechea, Carla Gazzi, Gustavo O. Castaño, Silvia Sookoian
Format: Article
Language:English
Published: Wolters Kluwer Health/LWW 2018-09-01
Series:Hepatology Communications
Online Access:https://doi.org/10.1002/hep4.1235

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