脉络膜营养不良基因外显子3剪接受体位点处聚（T）序列的长度变异。
Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia gene.
作者信息
Beaufrère L, Rieu S, Hache J C, Dumur V, Claustres M, Tuffery S
机构信息
Laboratoire de Biochimie Génétique, CNRS ERS 155, Institut de Biologie, Montpellier, France.
出版信息
Genet Couns. 1998;9(4):255-7.
PMID:9894161
Abstract
By using the single strand conformational analysis to search for point mutations in the choroideremia gene, we have identified an intronic polymorphism within the intron 2 of the CHM gene. We have studied the frequency of this polymorphism in the population from South of France.
摘要
通过使用单链构象分析来寻找脉络膜营养不良基因中的点突变，我们在CHM基因的第2内含子中鉴定出一种内含子多态性。我们研究了法国南部人群中这种多态性的频率。
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