DIABETES-MELLITUS IS ONE OF THE HETEROGENEOUS PHENOTYPIC FEATURES OF A MITOCHONDRIAL-DNA POINT MUTATION WITHIN THE TRANSFER-RNA LEU(UUR) GENE

被引：58

作者：

GERBITZ, KD ^{[1
]}

PAPROTTA, A ^{[1
]}

JAKSCH, M ^{[1
]}

ZIERZ, S ^{[1
]}

DRECHSEL, J ^{[1
]}

机构：

[1] UNIV BONN,NEUROL KLIN,W-5300 BONN,GERMANY

来源：

FEBS LETTERS | 1993年 / 321卷 / 2-3期

关键词：

MTDNA MUTATION; DIABETES; DEAFNESS; CARDIOMYOPATHY; MELAS;

D O I：

10.1016/0014-5793(93)80106-5

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A heteroplasmic point mutation (transition A-to-G at nucleotide position 3,243 in the mitochondrial tRNA(Leu(UUR)) gene) is found in a family suffering from a syndrome with diabetes, deafness and cardiomyopathy as the predominant clinical features.

引用

页码：194 / 196

页数：3

共 13 条

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