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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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Bibliografische gegevens
Gepubliceerd in:Front Genet
Hoofdauteurs: Bibi, Nousheen, Ullah, Asmat, Darwesh, Lubna, Khan, Waqas, Khan, Tanzeela, Ullah, Kalim, Khan, Bushra, Ahmad, Wasim
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2020
Onderwerpen:
Online toegang: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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