Open AccessNovel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing
Author(s) -
Lihua Lu,
Xizhen Wang,
David Lo,
Jingning Weng,
xiaohong Liu,
Juhua Yang,
Fenglan He,
Yun Wang,
Xuyang Liu
Publication year - 2016
Publication title -
oncotarget
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.373
H-Index - 127
ISSN - 1949-2553
DOI - 10.18632/oncotarget.12971
Subject(s) - retinitis pigmentosa , proband , sanger sequencing , genetics , compound heterozygosity , biology , mutation , gene , dna sequencing , exome sequencing
To detect the disease-causing gene in a Chinese pedigree with autosomal-recessive retinitis pigmentosa (ARRP).