Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)

Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin....

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Detalles Bibliográficos
Autores principales: Ghodsinejad Kalahroudi, Vadieh, Kamalidehghan, Behnam, Arasteh Kani, Ahoura, Aryani, Omid, Tondar, Mahdi, Ahmadipour, Fatemeh, Chung, Lip Yong, Houshmand, Massoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162572/
https://www.ncbi.nlm.nih.gov/pubmed/25216246
http://dx.doi.org/10.1371/journal.pone.0106656

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