A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.

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作者信息

Saviozzi S, Saluto A, Taylor A M, Last J I, Trebini F, Paradiso M C, Grosso E, Funaro A, Ponzio G, Migone N, Brusco A

出版信息

J Med Genet. 2002 Jan;39(1):57-61. doi: 10.1136/jmg.39.1.57.

DOI:10.1136/jmg.39.1.57

PMID:11826028

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1734960/

Abstract

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