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An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids.

Tyrosinase-positive oculocutaneous albinism (OCA2), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common recessive disorder occurring in southern African Bantu-speaking Negroids, with an overall prevalence of 1/3,900. The OCA2 gene, P, has been mapped to chromosome...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Stevens, G, van Beukering, J, Jenkins, T, Ramsay, M
Format: Artigo
Langue:Inglês
Publié: 1995
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801183/
https://ncbi.nlm.nih.gov/pubmed/7887411
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