Ontology highlight
ABSTRACT:
SUBMITTER: Yi J
PROVIDER: S-EPMC3573736 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Yi Junhui J Li Shiqiang S Jia Xiaoyun X Xiao Xueshan X Wang Panfeng P Guo Xiangming X Zhang Qingjiong Q
International journal of molecular medicine 20120110 4
To identify mutations in the retinoschisin (RS1) gene in families with X-linked retinoschisis (XLRS). Twenty families with XLRS were enrolled in this study. All six coding exons and adjacent intronic regions of RS1 were amplified by polymerase chain reaction (PCR). The nucleotide sequences of the amplicons were determined by Sanger sequencing. Ten hemizygous mutations in RS1 were detected in patients from 14 of the 20 families. Four of ...[more]