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Article

Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

Journal of human genetics - 1 May 2016

Khordadpoor-Deilamani Faravareh, Akbari Mohammad Taghi, Karimipoor Morteza, Javadi Gholam Reza

Abstract excerpt

Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented hair, skin and eyes. It is associated with decreased visual acuity, nystagmus, strabismus and photophobia. Six genes are known to be involved in nonsyndromic oculocutaneous albinism (OCA). In this study, we aimed to find the disease causing mutations in albinism patients using homozygosity mapping. Twenty three...

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Source

Identifiers

PMID: 26818737
DOI: 10.1038/jhg.2015.167

Genes

OCA2
TYR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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