Six new Gaucher disease mutations

被引：19

作者：

Demina, A ^{[1
]}

Beutler, E ^{[1
]}

机构：

[1] Scripps Res Inst, Dept Mol & Expt Med, La Jolla, CA 92037 USA

来源：

ACTA HAEMATOLOGICA | 1998年 / 99卷 / 02期

关键词：

glucocerebrosidase;

D O I：

10.1159/000040815

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Six previously undescribed mutations were identified in 6 unrelated Gaucher disease patients: 437C-->T((107)Ser-->Leu), 593C-->T((159)Pro-->Leu), 604C-->T((163)Arg-->Stop), 1138G-->A((341)Ala-->Thr), 1214G-->A((366)Ser-->Asn), 1294T-->A((393)Trp-->Arg). Five patients were compound heterozygotes and 1 patient was a 593T/593T homozygote. Four patients had type I Gaucher disease with mild clinical phenotypes. Two other patients manifested central nervous system involvement (type II and type III).

引用

页码：80 / 82

页数：3

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