A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population

被引：3

作者：

Fang, Chen ^{[1
]}

Huang, Jian ^{[2
]}

Huang, Yun ^{[1
]}

Chen, Linqi ^{[3
]}

Chen, Xiuli ^{[3
]}

Hu, Ji ^{[1
]}

机构：

[1] Soochow Univ, Affiliated Hosp 2, Dept Endocrinol, Suzhou 215004, Peoples R China

[2] Soochow Univ, Coll Med, Sch Basic Med & Biol Sci, Suzhou 215123, Peoples R China

[3] Soochow Univ, Childrens Hosp, Dept Endocrinol, Suzhou 215003, Peoples R China

来源：

DIABETES RESEARCH AND CLINICAL PRACTICE | 2015年 / 109卷 / 02期

基金：

中国国家自然科学基金;

关键词：

Hepatocyte nuclear factor 1-alpha; Maturity-onset diabetes of the young; type; 3; Nonsense mutation; DIAGNOSIS; CHILDREN; MODY; GENE;

D O I：

10.1016/j.diabres.2015.05.026

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We reported a novel nonsense mutation, R54X of the hepatic nuclear factor 1 alpha (HNF1 alpha) gene in a Chinese family. The mutation was identified in a 47 years old woman and her 19 years old daughter within a five-family members tested. Both the two patients were sensitive to insulin and glibenclamide treatments. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

引用

页码：E5 / E7

页数：3

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