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Albinism with autosomal recessive inherited defect of tyrosinase formation with consecutive complete disorder of melanin synthesis (melanosomes mature only incompletely) due to reduced or absent tyrosinase activity; about 80 mutations in the tyrosinase gene (TYR) have been described). OCA 1 is also known as yellow albinism .
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- Baxter LL, Pavan WJ (2002) The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. Mech Dev 116: 209-212
- Kamaraj B et al(2014) Mutational analysis of oculocutaneous albinism: a compact review. Biomed Res Int doi: 10.1155/2014/905472.
- King RA et al (2003) Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet 113: 502-513
- Kubasch A et al (2017) Oculocutaneous and ocular albinism. Dermatologist 68: 867-875
- King RA et al (2003) MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). At J Hum Genet 73: 638-645
- Nakamura E et al (2002) A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). J Dermatol Sci 28: 102-105
- Oetting WS et al (2003) Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res 16: 307-311
- Okulicz JF et al (2003) Oculocutaneous albinism. J Eur Acad Dermatol Venereol 17: 251-256
- Rundshagen U et al (2003) Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4 Hum mutation 23: 106-110
- Terenziani M et al (2003) Amelanotic melanoma in a child with oculocutaneous albinism. Med Pediatr Oncol 41: 179-180
Incoming links (5)Albinism i; Albinism oculocutaneous tyrosinase-positive; Albinism totalis; Eye diseases, skin changes; TYR Gene ;
Outgoing links (11)Actinic elastosis; Actinic keratosis; Albinism, oculocutaneous, yellow mutant; Albinism (overview); Basal cell carcinoma (overview); Carcinoma of the skin (overview); Lentigo; Melanoma cutaneous; Melanosomes; Squamous cell carcinoma of the skin; ... Show all
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