Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers-Danlos syndrome
在患有埃勒斯-当洛斯综合征的猫家族中鉴定出ADAMTS2移码变异
期刊:G3-Genes Genomes Genetics
影响因子:2.2
doi:10.1093/g3journal/jkad152
Simon, Rebecca; Kiener, Sarah; Thom, Nina; Schäfer, Laura; Müller, Janina; Schlohsarczyk, Elfi K; Gärtner, Ulrich; Herden, Christiane; Leeb, Tosso; Lühken, Gesine