Open AccessWhole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes
Author(s) -
Worapoj Jinda,
Todd D. Taylor,
Yutaka Suzuki,
Wanna Thongnoppakhun,
Chanin Limwongse,
Patcharee Lertrit,
Adisak Trinavarat,
Laongsri Atchaneeyasakul
Publication year - 2017
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.16-21322
Subject(s) - exome sequencing , gene , genetics , missense mutation , biology , bioinformatics , computational biology , medicine , mutation
Our goal was to describe the clinical and molecular genetic findings in Thai patients with Leber congenital amaurosis (LCA).
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