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

被引：35

作者：

Saviozzi, S

Saluto, A

Taylor, AMR

Last, JIL

Trebini, F

Paradiso, MC

Grosso, E

Funaro, A

Ponzio, G

Migone, N

Brusco, A

机构：

[1] Dipartimento Genet Biol & Biochim, I-10126 Turin, Italy

[2] Univ Birmingham, CRC, Inst Canc Studies, Birmingham B15 2TT, W Midlands, England

[3] Osped Mauriziano Umberto 1, Div Neurol, Turin, Italy

[4] Azienda Osped San Giovanni Battista, Unita Operat Genet Med, Turin, Italy

来源：

JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 01期

关键词：

D O I：

10.1136/jmg.39.1.57

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：57 / 61

页数：5

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