Alternative splicing of dystrophin mRNA complicate

更新时间:2023-06-25 02:12:54 阅读: 评论:0

西班牙文翻译
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Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMD
family.
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期刊名称: Journal of Medical Genetics
国庆节快乐英语
作者: Lenk, U,Demuth, S,Kraft, U,Hanke, R,Speer, A
hard什么意思中文意思
年份: 1993年
areacode期号: 第3期
皮肤干怎么办摘要:Carrier determination is important for genetic counlling in DMD/BMD families. The detection of altered PCR amplified dystrophin mRNA fragments owing to deletions, inrtions, or point mutations has incread the possibilities of carrier determination. However, problems may occur becau of alternative splicing events. Here we prent a family with a DMD patient characterid by a deletion of exons 45 to 54. At the mRNA level we detected a corresponding altered fragment which rved for carrier determination. The mother and the sister of the patient showed the same altered dystrophin mR韩文初步学习
NA fragment as the patient and are therefore carriers. In the mother two additional altered dystrophin mRNA fragments were detectable, obviously resulting from alternative splicing in the normal allele. The grandmother and two other related females bonoloto
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