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Molecular genetics of oculocutaneous albinism
Human Molecular Genetics, 1994Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from deficient enzymatic activity of tyrosinase, which catalyzes at least three steps in the melanin biosynthetic pathway.
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Oculocutaneous albinism spectrum
American Journal of Medical Genetics Part A, 2009Pei-Wen, Chiang +2 more
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[Genetics of oculocutaneous albinism].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2007Albinism comprises a heterogeneous group of nonprogressive genetic disorders characterized by the absence of pigmentation in the skin, hair, and/or eyes. Hypopigmentation or complete lack of pigmentation is caused by an enzyme deficiency involving the production, metabolism, or distribution of melanin.
C, Zühlke +2 more
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Oculocutaneous albinism type 2:
2003Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular, and pilar pigmentation from the time of birth. Oculocutaneous albinism types I and II are the most common, with several other types described.
Centurión, Santiago A. +1 more
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Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives
Clinical Ophthalmology, 2022Anthony G Robson
exaly
Genetics of non‐syndromic and syndromic oculocutaneous albinism in human and mouse
Pigment Cell and Melanoma Research, 2021Almudena Fernandez +2 more
exaly