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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Detalles Bibliográficos
Autores principales: Luo, Fei, Xing, Chao, Asrani, Sumeet K., Li, Shili, Liang, Guosheng, Hobbs, Helen H., Cohen, Jonathan C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371211/
https://www.ncbi.nlm.nih.gov/pubmed/34271222
http://dx.doi.org/10.1016/j.molmet.2021.101299

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371211/
https://www.ncbi.nlm.nih.gov/pubmed/34271222
http://dx.doi.org/10.1016/j.molmet.2021.101299

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