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Article

Molecular basis of oculocutaneous albinism type 1 in Lebanese patients.

Journal of human genetics - 1 Jan 2005

Zahed Laila, Zahreddine Hala, Noureddine Baha', Rebeiz Nelly, Shakar Nadine, Zalloua Pierre, Haddad Fadi

Abstract excerpt

Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme. A large number of mutations have been identified worldwide, providing insight into the pathogenesis of the disorder. We performed ophthalmic and dermatological exams on 30 Lebanese subjects with oculocutaneous albinism, then screened for mutations in...

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Identifiers

PMID: 15937636
DOI: 10.1007/s10038-005-0257-5

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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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