天冬氨酸酰基转移酶基因的G212A突变纯合性与不典型形式的卡纳万病相关。 - Suppr

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超能文献

Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease.

作者信息

Velinov M, Zellers N, Styles J, Wisniewski K

出版信息

Clin Genet. 2008 Mar;73(3):288-9. doi: 10.1111/j.1399-0004.2007.00934.x. Epub 2007 Dec 6.

DOI:10.1111/j.1399-0004.2007.00934.x

PMID:18070137

Abstract

摘要

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