Suppr超能文献

delta F508 frequency and associated haplotypes near the cystic fibrosis locus in the Yugoslav population.

作者信息

Simova L, Williams C, Efremov G D, Gordova-Muratovska A, Sustić S, Watson E K, Williamson R

机构信息

Regional DNA Laboratory, St. Mary's Hospital Medical School, London, UK.

出版信息

Hum Genet. 1990 Sep;85(4):432-3. doi: 10.1007/BF02428301.

Abstract

Chromosomes from 19 unrelated Southern Yugoslav families in which cystic fibrosis (CF) occurs were analysed for the presence of the delta F508 mutation, using polymerase chain reaction amplification followed by dot blot and polyacrylamide gel analysis. Of the 38 CF chromosomes, 15 (39.5%) carry the delta F508 deletion. Restriction fragment length polymorphism haplotypes for KM19/PstI, XV2c/TaqI and J3.11/PstI marker loci were determined and are compared for a total of 34 N and 37 CF chromosomes.

摘要

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验