Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy
TUBGCP4 基因突变通过 γ-微管蛋白环复合物改变微管组织,导致常染色体隐性遗传性小头畸形伴脉络膜视网膜病变。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.02.011
Scheidecker, Sophie; Etard, Christelle; Haren, Laurence; Stoetzel, Corinne; Hull, Sarah; Arno, Gavin; Plagnol, Vincent; Drunat, Séverine; Passemard, Sandrine; Toutain, Annick; Obringer, Cathy; Koob, Mériam; Geoffroy, Véronique; Marion, Vincent; Strähle, Uwe; Ostergaard, Pia; Verloes, Alain; Merdes, Andreas; Moore, Anthony T; Dollfus, Hélène