Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
复制标题
9 名 CFTR 无义突变 R1162X 纯合的囊性纤维化患者患有轻度或中度肺部疾病。
DOI：
10.1136/jmg.29.8.558
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发表时间：
1992
影响因子：
4
通讯作者：
P. Pignatti
中科院分区：
文献类型：
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作者：
P. Gasparini;G. Borgo;G. Mastella;A. Bonizzato;M. Dognini;P. Pignatti
研究了9例CF基因无义突变R1162X纯合子囊性纤维化患者的临床病程。由于这种突变会导致囊性纤维化跨膜调节因子（CFTR）蛋白合成中断，因此预期会出现严重的临床病程。所有患者均表现为胰腺功能不全，而肺部疾病的病程为轻至中度。这些结果表明，这种形式的截短的CFTR蛋白，仍然含有调节区，第一个ATP结合结构域，和两个跨膜结构域，可以在肺组织中部分工作。
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.
影响因子：
--
作者：
L. Tsui;M. Buchwald
通讯作者：
L. Tsui;M. Buchwald