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Article

Functional analysis of two mutation sites in the OCA2 gene.

Scientific reports - 26 Jun 2024

Yuan XiaoHua, Dang Qun, Li Xue Lan

Abstract excerpt

To analyse the genetic aetiology of a child with oculocutaneous albinism and to explore the effects of two mutation sites on the function of the OCA2 protein at the mRNA and protein levels via the use of recombinant carriers in vitro. Whole-exome sequencing (WES) and Sanger sequencing were used to analyse the pathogenic genes of the child and validate the mutations in the parents. pEGFP and phage vectors carrying...

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Identifiers

PMID: 38926510
DOI: 10.1038/s41598-024-64782-2
PMCID: PMC11208167

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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