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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Bibliografiska uppgifter
I publikationen:Hepatol Commun
Huvudupphovsmän: Pirola, Carlos J., Flichman, Diego, Dopazo, Hernán, Fernández Gianotti, Tomas, San Martino, Julio, Rohr, Cristian, Garaycoechea, Martin, Gazzi, Carla, Castaño, Gustavo O., Sookoian, Silvia
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2018
Ämnen:
Brief Reports
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6128235/
https://ncbi.nlm.nih.gov/pubmed/30202818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/hep4.1235
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