THE SPECTRUM OF CYSTIC-FIBROSIS MUTATIONS

被引：166

作者：

TSUI, LC

机构：

来源：

TRENDS IN GENETICS | 1992年 / 8卷 / 11期

关键词：

D O I：

10.1016/0168-9525(92)90168-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Although the major mutation causing cystic fibrosis accounts for almost 70% of mutant chromosomes screened, almost 300 sequence alterations have been identified in the gene during the past two and a half years. At least 230 of these mutations are probably associated with disease. This rapid accumulation of data is in part due to the highly coordinated effort by members of the Cystic Fibrosis Genetic Analysis Consortium*. The information is not only essential to genetic diagnosis, but also will aid in understanding the structure and function of the protein, and possibly in correlating genotype with phenotype.

引用

页码：392 / 398

页数：7

共 41 条

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