A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA
晚发型毛细血管扩张性共济失调症，具有复合杂合基因型 A8030G/7481insA
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmg.39.1.57
S Saviozzi, A Saluto, A M Taylor, J I Last, F Trebini, M C Paradiso, E Grosso, A Funaro, G Ponzio, N Migone, A Brusco
