Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus
在圆锥角膜易感基因位点13q32处发现一种新的突变和其他三种与表型分离的序列变异。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2011.203
Czugala, Marta; Karolak, Justyna A; Nowak, Dorota M; Polakowski, Piotr; Pitarque, Jose; Molinari, Andrea; Rydzanicz, Malgorzata; Bejjani, Bassem A; Yue, Beatrice Y J T; Szaflik, Jacek P; Gajecka, Marzena