Open AccessThe RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China
Author(s) -
Ying Xie,
Xiaolin Xu,
Wenbin Wei
Publication year - 2021
Publication title -
risk management and healthcare policy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.828
H-Index - 22
ISSN - 1179-1594
DOI - 10.2147/rmhp.s322373
Subject(s) - retinoblastoma , exon , medicine , genotype , gene mutation , point mutation , gene , venous blood , mutation , pathology , genetics , biology , microbiology and biotechnology
The present study screened the structural mutations of the retinoblastoma (RB1) gene using gene capture and a preliminary exploration of the correlation between the genotypes and phenotypes.