Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism
About this item
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Author / Creator
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
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Publisher
United States: American Society for Clinical Investigation
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Contents
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 patients with OCA1 might enhance visual function. There a...
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Full title
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3223618
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3223618
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI59372
