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Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation
Albinism is a genetic disorder, present worldwide, caused by mutations in genes affecting melanin production or transport in the skin, hair and eyes. To date, mutations in at least 20 different genes have been identified. Oculo-cutaneous Albinism type IV (OCA4) is the most frequent form in Asia but...
Autores principales: | Moreno-Artero, Ester, Morice-Picard, Fanny, Lasseaux, Eulalie, Robert, Matthieu P., Coste, Valentine, Michaud, Vincent, Leclerc-Mercier, Stéphanie, Bremond-Gignac, Dominique, Arveiler, Benoit, Hadj-Rabia, Smail |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777904/ https://www.ncbi.nlm.nih.gov/pubmed/36553465 http://dx.doi.org/10.3390/genes13122198 |
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