OCA1A

OCA1A
oculocutaneous albinism type 1.

Medical dictionary. 2011.

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  • Okulokutaner Albinismus Typ 4 — Der Okulokutane Albinismus Typ 4 (OCA 4) ist eine Form des Albinismus, die zu aufgehellter Haut und Haarfarbe aufgrund einer Mutation des MATP Gens führt. Weitere Namen des Gens sind: underwhite (uw), dominant brown (Dbr), B/AIM 1 like protein,… …   Deutsch Wikipedia

  • oculocutaneous albinism — (OCA) albinism characterized by partial or total absence of melanin from the melanocytes of the skin, hair, and eyes, with additional ocular defects including hypoplastic fovea, photophobia, nystagmus, and decreased visual acuity. There are a… …   Medical dictionary

  • Human skin color — Skin pigmentation redirects here. For animal skin pigmentation, see Biological pigment. Variety of skin colors Human skin color is primarily due to the presence of melanin in the skin. Skin color ranges from almost black to white with a pinkish… …   Wikipedia

  • Tyrosinase — monophenol monooxygenase Identifiers EC number 1.14.18.1 CAS number 9002 10 2 …   Wikipedia

  • Oculocutaneous albinism — Classification and external resources ICD 10 E70.3 ICD 9 270.2 …   Wikipedia

  • Albinismo — Clasificación y recursos externos CIE 10 E70.3 CIE 9 270.2 OMIM …   Wikipedia Español

  • Oculocutaneous albinism type I — Classification and external resources OMIM 203100 Oculocutaneous Albinism Type I or –Type 1A (OCA1A)[1] is an autosomal recessive skin disease associated with albi …   Wikipedia

  • Тирозиназа — Обозначения Символы TYR; ; OCA1A; OCAIA Entrez Gene 7299 …   Википедия

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