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Medico-Genetics of Oculocutaneous Albinism; An Updated Study with Pakistani Perspective.
Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
A dinucleotide deletion (?delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual.
Genetics of oculocutaneous albinism and its clinical analysis
The third locus of oculocutaneous albinism OCA3 is positioned on long arm of chromosome 9 (9p23).
Oculocutaneous albinism. Orph J Rare Dis 2007; 2:43.
Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene.
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
Photochromatic lenses were provided to 3 students, and a student with oculocutaneous albinism received sun lenses with a tint and ultraviolet protection.
Amelanotic metastatic melanoma in a patient with oculocutaneous albinism. J Am Acad Dermatol 1993; 28: 895-900.
Malignant melanoma in a patient with oculocutaneous albinism. J Cutan Med Surg 2000; 4:149-152.

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