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Pigmented skin lesions in tyrosinase-positive oculocutaneous albinos: a study in black South Africans.
Bothwell JE. Bothwell JE. Int J Dermatol. 1997 Nov;36(11):831-6. doi: 10.1046/j.1365-4362.1997.00259.x. Int J Dermatol. 1997. PMID: 9427075
BACKGROUND: The aim of this study was to document the nature, prevalence, and distribution of pigmented skin lesions in tyrosinase-positive oculocutaneous albinism (ty-pos OCA), the most common recessive disorder in South Africa (overall prevalence, 1 …
BACKGROUND: The aim of this study was to document the nature, prevalence, and distribution of pigmented skin lesions in tyrosinase- …
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.
Ramsay M, Colman MA, Stevens G, Zwane E, Kromberg J, Farrall M, Jenkins T. Ramsay M, et al. Am J Hum Genet. 1992 Oct;51(4):879-84. Am J Hum Genet. 1992. PMID: 1415228 Free PMC article.
Tyrosinase-positive oculocutaneous albinism (ty-pos OCA), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common type of albinism occurring worldwide. ...Since the basic biochemical defect is unknown, a linkage study wi …
Tyrosinase-positive oculocutaneous albinism (ty-pos OCA), an autosomal recessive disorder of the melanin biosynt …
Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism.
Colman MA, Stevens G, Ramsay M, Kwon B, Jenkins T. Colman MA, et al. Hum Genet. 1993 Jan;90(5):556-60. doi: 10.1007/BF00217458. Hum Genet. 1993. PMID: 8428754
The locus for Tyrosinase-Positive Oculocutaneous Albinism (ty-pos OCA) has not yet been localised. The search for the ty-pos OCA locus has included a search for linkage to candidate pigment loci and a candidate chromosomal region, as well as a rando …
The locus for Tyrosinase-Positive Oculocutaneous Albinism (ty-pos OCA) has not yet been localised. The search fo …
Granulomatous enterocolitis associated with Hermansky-Pudlak syndrome.
Grucela AL, Patel P, Goldstein E, Palmon R, Sachar DB, Steinhagen RM. Grucela AL, et al. Am J Gastroenterol. 2006 Sep;101(9):2090-5. doi: 10.1111/j.1572-0241.2006.00733.x. Epub 2006 Jul 18. Am J Gastroenterol. 2006. PMID: 16848805
BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder. It consists of a triad of tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding diathesis resulting from platelet dysfunction, and systemic complications a …
BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder. It consists of a triad of tyrosinase-positive …