Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism

ConclusionThis study has identified two novel compound variants in theOCA2 gene and a previously reported variant in a Chinese family with OCA. By expanding the mutation spectrum of theOCA2 gene, our findings contribute to a better understanding of the genetic basis of OCA.

Source: Molecular Genetics & Genomic Medicine - October 27, 2023 Category: Genetics & Stem Cells Authors: Beilei Jiang, Hua Zhang, Yuling Kan, Xueping Gao, Zhaoli Du, Quan Liu Tags: ORIGINAL ARTICLE Source Type: research