Ontology highlight
ABSTRACT:
SUBMITTER: Dan H
PROVIDER: S-EPMC7057118 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Dan Handong H Huang Xin X Xing Yiqiao Y Shen Yin Y
Molecular genetics & genomic medicine 20200120 3
<h4>Background</h4>This study aimed to identify the gene variants and molecular etiologies in 76 unrelated Chinese families with retinitis pigmentosa (RP).<h4>Methods</h4>In total, 76 families with syndromic or nonsyndromic RP, diagnosed on the basis of clinical manifestations, were recruited for this study. Genomic DNA samples from probands were analyzed by targeted panels or whole exome sequencing. Bioinformatics analysis, Sanger sequencing, and available family member segregation were used to ...[more]