A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient

被引：13

作者：

Park, KC

Choi, HO

Park, KH

Kim, KH

Eun, HC

机构：

[1] Seoul Natl Univ, Coll Med, Dept Dermatol, Chongno Gu, Seoul 110744, South Korea

[2] Seoul Natl Univ, Coll Med, Clin Res Inst, Artificial Organ Lab,Chongno Gu, Seoul 110744, South Korea

来源：

JOURNAL OF HUMAN GENETICS | 2000年 / 45卷 / 02期

关键词：

hot spot; mutation; neurofibromatosis;

D O I：

10.1007/s100380050016

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a case of neurofibromatosis (NF) 1 presenting as a C-to-T transition changing an Arg-1947 codon to a stop codon. Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in ail ethnic groups.

引用

页码：84 / 85

页数：2

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