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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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Front Genet
Päätekijät: Bibi, Nousheen, Ullah, Asmat, Darwesh, Lubna, Khan, Waqas, Khan, Tanzeela, Ullah, Kalim, Khan, Bushra, Ahmad, Wasim
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2020
Aiheet:
Genetics
Linkit: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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