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Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism

Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1–OCA4) that result from disruption i...

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Bibliografiske detaljer
Main Authors: Manga, Prashiela, Orlow, Seth J.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2011
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3195484/
https://ncbi.nlm.nih.gov/pubmed/21968107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI59763
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