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
收藏
页码：84 / 85
页数：2
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