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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Main Authors: Nousheen Bibi, Asmat Ullah, Lubna Darwesh, Waqas Khan, Tanzeela Khan, Kalim Ullah, Bushra Khan, Wasim Ahmad, Umm-e-Kalsoom
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020-07-01
Colecção:Frontiers in Genetics
Assuntos:
dynamic simulation
molecular modeling
non-syndromic oculocutaneous albinism
tyrosinase (TYR)
SLC45A2
Acesso em linha:https://www.frontiersin.org/article/10.3389/fgene.2020.00749/full
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