Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations

PURPOSE: Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented eyes (in patients with ocular albinism) or hair, skin, and eyes (in individuals with oculocutaneous albinism). It is associated with decreased visual acuity, nystagmus, strabismus, and photophobi...

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Detalles Bibliográficos
Autores principales: Khordadpoor-Deilamani, Faravareh, Akbari, Mohammad Taghi, Karimipoor, Morteza, Javadi, Gholamreza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4499471/
https://www.ncbi.nlm.nih.gov/pubmed/26167114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4499471/
https://www.ncbi.nlm.nih.gov/pubmed/26167114

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