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Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4

Oculocutaneous albinism (OCA) affects ∼1/20,000 people worldwide. All forms of OCA exhibit generalized hypopigmentation. Reduced pigmentation during eye development results in misrouting of the optic nerves, nystagmus, alternating strabismus, and reduced visual acuity. Loss of pigmentation in the sk...

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Detalles Bibliográficos
Main Authors: Newton, J. M., Cohen-Barak, Orit, Hagiwara, Nobuko, Gardner, John M., Davisson, Muriel T., King, Richard A., Brilliant, Murray H.
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2001
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274374/
https://ncbi.nlm.nih.gov/pubmed/11574907
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