Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism

Non-syndromic oculocutaneous albinism (nsOCA) is an inherited disorder of melanin biosynthesis with autosomal recessive mode of inheritance, presenting either hypopigmented or depigmented skin, hair, and eyes. It is genetically heterogeneous with seven loci (OCA1–OCA7) reported to date. In the prese...

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Detalles Bibliográficos
Autores principales: Bibi, Nousheen, Ullah, Asmat, Darwesh, Lubna, Khan, Waqas, Khan, Tanzeela, Ullah, Kalim, Khan, Bushra, Ahmad, Wasim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7385404/
https://www.ncbi.nlm.nih.gov/pubmed/32849781
http://dx.doi.org/10.3389/fgene.2020.00749

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7385404/
https://www.ncbi.nlm.nih.gov/pubmed/32849781
http://dx.doi.org/10.3389/fgene.2020.00749

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