9 CYSTIC-FIBROSIS PATIENTS HOMOZYGOUS FOR THE CFTR NONSENSE MUTATION R1162X HAVE MILD OR MODERATE LUNG-DISEASE

被引：35

作者：

GASPARINI, P ^{[1
]}

BORGO, G ^{[1
]}

MASTELLA, G ^{[1
]}

BONIZZATO, A ^{[1
]}

DOGNINI, M ^{[1
]}

PIGNATTI, PF ^{[1
]}

机构：

[1] CYST FIBROSIS CTR, VERONA, ITALY

来源：

JOURNAL OF MEDICAL GENETICS | 1992年 / 29卷 / 08期

关键词：

D O I：

10.1136/jmg.29.8.558

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The clinical course of nine cystic fibrosis patients homozygous for the CF gene nonsense mutation R1162X was investigated. Since this mutation should lead to an interruption in the synthesis of the cystic fibrosis transmembrane regulator (CFTR) protein, a severe clinical course was expected. All patients showed pancreatic insufficiency, while the course of the lung disease was mild to moderate. These results suggest that this form of truncated CFTR protein, still containing the regulatory region, the first ATP binding domain, and both transmembrane domains, could be partially working in the lung tissues.

引用

页码：558 / 562

页数：5

共 37 条

[1]

ADAMS JG, 1990, SEMIN HEMATOL, V27, P229

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