Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene
一对夫妇携带相同的线粒体DNA，但其MOCS2基因中存在致病性c.471_477delTTTAAAAinsG变异，最终成功诞下一名健康婴儿。
期刊:Genes
影响因子:2.8
doi:10.3390/genes14030720
Tofilo, Maria; Voronova, Natalia; Nigmatullina, Leila; Kuznetsova, Elena; Timonina, Valeria; Efimenko, Bogdan; Turgunkhujaev, Oybek; Avdeichik, Svetlana; Ansar, Muhammad; Popadin, Konstantin; Kirillova, Anastasia; Mazunin, Ilya
