A CYSTIC-FIBROSIS PATIENT HOMOZYGOUS FOR THE NONSENSE MUTATION R553X

被引：25

作者：

BAL, J

STUHRMANN, M

SCHLOESSER, M

SCHMIDTKE, J

REISS, J

机构：

[1] UNIV GOTTINGEN,INST HUMAN GENET,GOSSLERSTR 12D,W-3400 GOTTINGEN,GERMANY

[2] MED HSCH HANNOVER,DEPT HUMAN GENET,W-3000 HANNOVER 61,GERMANY

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 10期

关键词：

D O I：

10.1136/jmg.28.10.715

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A cystic fibrosis patient homozygous for the nonsense mutation R553X was identified by mutation screening and the genotype confirmed by DNA sequencing. This patient, the only one described to date who is homozygous for this stop condon in exon 11 of the CFTR gene, is moderately severely affected. Clinical and molecular findings are presented.

引用

页码：715 / 717

页数：3

共 8 条

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