Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
在已知患有常染色体显性遗传性黄斑营养不良的家族中,PROM1 突变表现出扩展的眼外表型
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2014.258
Mo, Kılınç; Vn, Ninis; Sa, Uğur; B, Tüysüz; M, Seven; S, Balcı; J, Goodship; A, Tolun; Castellanos, Elisabeth; Rosas, Imma; Solanes, Ares; Bielsa, Isabel; Lázaro, Conxi; Carrato, Cristina; Hostalot, Cristina; Prades, Pepe; Roca-Ribas, Francesc; Blanco, Ignacio; Arrigoni, Francesca I; Matarin, Mar; Thompson, Pamela J; Michaelides, Michel; McClements, Michelle E; Redmond, Elizabeth; Clarke, Lindsey; Ellins, Elizabeth; Mohamed, Saifullah; Pavord, Ian; Klein, Nigel; Hunt, David M; Moore, Anthony T; Halcox, Julian; Sisodiya, Sanjay M