Open AccessIdentification of a novel compound heterozygous CYP4V2 variant in a patient with autosomal recessive retinitis pigmentosa
Author(s) -
Tongdan Zou,
Ting Wang,
Fangyuan Zhen,
Shujun Dong,
Bo Gong,
Houbin Zhang
Publication year - 2022
Publication title -
biomedical reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.607
H-Index - 25
eISSN - 2049-9442
pISSN - 2049-9434
DOI - 10.3892/br.2022.1523
Subject(s) - retinitis pigmentosa , proband , compound heterozygosity , genetics , sanger sequencing , exome sequencing , biology , genetic heterogeneity , phenotype , gene , mutation