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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 op...

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Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15937636-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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