Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.
Several types of autosomal recessive oculocutaneous albinism (OCA) are associated with abnormal tyrosinase function and a generalized reduction in or absence of cutaneous and eye melanin. Each is thought to result from a different mutant allele at the tyrosinase locus, with the mutation producing an...
Gespeichert in:
| Veröffentlicht in: | J Clin Invest |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Society for Clinical Investigation
1991
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| Schlagworte: | |
| Online-Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC329899/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1900307/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115064 |
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