Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D

被引：8

作者：

Parad, RB

机构：

[1] Ina Sue Perlmutter Cystic F.R.L., Harvard Medical School, Children's Hospital, Boston, MA 02115, 300 Longwood Avenue

来源：

JOURNAL OF MEDICAL GENETICS | 1996年 / 33卷 / 08期

关键词：

cystic fibrosis; CFTR exon 11; G551D;

D O I：

10.1136/jmg.33.8.711

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In the heterozygous state, the cystic fibrosis transmembrane conductance regulator (CFTR) exon 11 mutation G551D has been described as ''severe,'' causing pancreatic insufficiency. Two cystic fibrosis (CF) patients homozygous for this mutation showed a mild rather than severe pancreatic phenotype and a variable pulmonary phenotype.

引用

页码：711 / 713

页数：3

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