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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Main Authors: Ghodsinejad Kalahroudi, Vadieh, Kamalidehghan, Behnam, Arasteh Kani, Ahoura, Aryani, Omid, Tondar, Mahdi, Ahmadipour, Fatemeh, Chung, Lip Yong, Houshmand, Massoud
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4162572/
https://ncbi.nlm.nih.gov/pubmed/25216246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0106656
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