Ontology highlight
ABSTRACT:
SUBMITTER: Huang XF
PROVIDER: S-EPMC3667821 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Huang Xiu-Feng XF Xiang Ping P Chen Jie J Xing Dong-Jun DJ Huang Na N Min Qingjie Q Gu Feng F Tong Yi Y Pang Chi-Pui CP Qu Jia J Jin Zi-Bing ZB
PloS one 20130530 5
Usher syndrome (USH) is a leading cause of deaf-blindness in autosomal recessive trait. Phenotypic and genetic heterogeneities in USH make molecular diagnosis much difficult. This is a pilot study aiming to develop an approach based on next-generation sequencing to determine the genetic defects in patients with USH or allied diseases precisely and effectively. Eight affected patients and twelve unaffected relatives from five unrelated Chinese USH families, including 2 pseudo-dominant ones, were ...[more]