N1303K mutation and diabetes mellitus in cystic fibrosis.
作者信息
Cotellessa M, Mazzella M, Bruno C, Buzzanca C, Minicucci L, Gandino M, Romano L, Romano C
出版信息
Arch Dis Child. 1996 Dec;75(6):546. doi: 10.1136/adc.75.6.546.
Abstract
摘要
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Rescue of NBD2 mutants N1303K and S1235R of CFTR by small-molecule correctors and transcomplementation.通过小分子校正剂和反式互补对囊性纤维化跨膜传导调节因子（CFTR）的NBD2突变体N1303K和S1235R进行挽救。
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本文引用的文献
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Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus.囊性纤维化与糖尿病发生相关的基因型分析
Clin Genet. 1993 Apr;43(4):186-9. doi: 10.1111/j.1399-0004.1993.tb04445.x.
2
Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.对来自意大利东北部的一组囊性纤维化患者的62种突变进行筛查：其发生率及特定基因型的临床特征。
Hum Mutat. 1993;2(5):389-94. doi: 10.1002/humu.1380020511.
3
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.囊性纤维化（CFTR）基因N1303K突变的发生率及表达情况。
Hum Genet. 1992 Aug;89(6):653-8. doi: 10.1007/BF00221957.
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