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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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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Society for Clinical Investigation
2011
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| Online dostop: | 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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