Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

Mutation of the tyrosinase gene (TYR) causes oculocutaneous albinism, type 1 (OCA1), a condition characterized by reduced skin and eye melanin pigmentation and by vision loss. The retinal pigment epithelium influences postnatal visual development. Therefore, increasing ocular pigmentation in patient...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Onojafe, Ighovie F., Adams, David R., Simeonov, Dimitre R., Zhang, Jun, Chan, Chi-Chao, Bernardini, Isa M., Sergeev, Yuri V., Dolinska, Monika B., Alur, Ramakrishna P., Brilliant, Murray H., Gahl, William A., Brooks, Brian P.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Clinical Investigation 2011
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3223618/
https://ncbi.nlm.nih.gov/pubmed/21968110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI59372
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