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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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Bibi, Nousheen, Ullah, Asmat, Darwesh, Lubna, Khan, Waqas, Khan, Tanzeela, Ullah, Kalim, Khan, Bushra, Ahmad, Wasim
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7385404/
https://ncbi.nlm.nih.gov/pubmed/32849781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00749
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