A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions
SAMHD1基因中的大片段纯合缺失会导致与线粒体DNA缺失相关的非典型艾卡迪-古蒂埃综合征。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2010.213
Leshinsky-Silver, Esther; Malinger, Gustavo; Ben-Sira, Liat; Kidron, Dvora; Cohen, Sarit; Inbar, Shani; Bezaleli, Tali; Levine, Arie; Vinkler, Chana; Lev, Dorit; Lerman-Sagie, Tally
