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Article

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

Human genetics - 1 Jan 2001

Bassi M T, Bergen A A, Bitoun P, Charles S J, Clementi M, Gosselin R, Hurst J, Lewis R A, Lorenz B, Meitinger T, Messiaen L, Ramesar R S, Ballabio A, Schiaffino M V

Abstract excerpt

Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by congenital nystagmus and photodysphoria, moderate to severe reduction of visual acuity, hypopigmentation of the retina, and the presence of macromelanosomes in the skin and eyes. We have previously isolated the gene for...

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Identifiers

PMID: 11214907
DOI: 10.1007/s004390000440

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11214907-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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