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Article

A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.

Human mutation - 1 Oct 2021

Loftus Stacie K, Lundh Linnea, Watkins-Chow Dawn E, Baxter Laura L, Pairo-Castineira Erola, Nisc Comparative Sequencing Program, Jackson Ian J, Oetting William S, Pavan William J, Adams David R

Abstract excerpt

Oculocutaneous albinism (OCA) is a heritable disorder of pigment production that manifests as hypopigmentation and altered eye development. Exon sequencing of known OCA genes is unsuccessful in producing a complete molecular diagnosis for a significant number of affected individuals. We sequenced the DNA of individuals with OCA using short-read custom capture sequencing that targeted coding, intronic, and...

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Identifiers

PMID: 34246199
DOI: 10.1002/humu.24257
PMCID: PMC8435020

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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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