Missense variant in insulin receptor (Y1355H) segregates in family with fatty liver disease

A missense variant in the cytoplasmic domain of the insulin receptor (INSR) was identified by exome sequencing in affected members of a four-generation family with fatty liver disease (FLD). The variant (rs766457461, c.4063T>C, p.Y1355H) results in the substitution of histidine for a tyrosine tha...

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Main Authors: Fei Luo (Author), Chao Xing (Author), Sumeet K. Asrani (Author), Shili Li (Author), Guosheng Liang (Author), Helen H. Hobbs (Author), Jonathan C. Cohen (Author)
Format: Book
Published: Elsevier, 2021-11-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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