ATM基因中c6325T>G转换的纯合性导致共济失调毛细血管扩张症的一种非典型、迟发性变异形式。 - Suppr

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.

作者信息

Silvestri Gabriella, Masciullo Marcella, Piane Maria, Savio Camilla, Modoni Anna, Santoro Massimo, Chessa Luciana

出版信息

J Neurol. 2010 Oct;257(10):1738-40. doi: 10.1007/s00415-010-5583-7. Epub 2010 May 18.

DOI:10.1007/s00415-010-5583-7

PMID:20480175

Abstract

摘要

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Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.

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