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...

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Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Clinical Investigation 2011
Ämnen:
Research Article
Länkar: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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