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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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Auteurs principaux: Nousheen Bibi, Asmat Ullah, Lubna Darwesh, Waqas Khan, Tanzeela Khan, Kalim Ullah, Bushra Khan, Wasim Ahmad, Umm-e-Kalsoom
Format: Artigo
Langue:Inglês
Publié: Frontiers Media S.A. 2020-07-01
Collection:Frontiers in Genetics
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Accès en ligne:https://www.frontiersin.org/article/10.3389/fgene.2020.00749/full
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