囊性纤维化跨膜传导调节因子（CFTR）基因第8内含子剪接受体位点内多嘧啶序列的新型长度变异：对使用标准检测方法进行基因检测的影响 - Suppr

Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.

作者信息

Viel Marion, Leroy Chrystel, Des Georges Marie, Claustres Mireille, Bienvenu Thierry

出版信息

Eur J Hum Genet. 2005 Feb;13(2):136-8. doi: 10.1038/sj.ejhg.5201261.

DOI:10.1038/sj.ejhg.5201261

PMID:15562283

Abstract

摘要

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Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.

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Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.

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