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

• প্রধান লেখক: Fei Luo (লেখক), Chao Xing (লেখক), Sumeet K. Asrani (লেখক), Shili Li (লেখক), Guosheng Liang (লেখক), Helen H. Hobbs (লেখক), Jonathan C. Cohen (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Elsevier, 2021-11-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

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...