Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families

Oculocutaneous albinism (OCA) is associated with a wide range of clinical presentations and has been categorized with syndromic and non-syndromic features. The most common causative genes in non-syndromic OCA are TYR and OCA2 and HSP1 is in the syndromic albinism. The objective of this study was to...

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Detalles Bibliográficos
Autores principales: Shakil, Muhammad, Akbar, Abida, Aisha, Nazish Mahmood, Hussain, Intzar, Ullah, Muhammad Ikram, Atif, Muhammad, Kaul, Haiba, Amar, Ali, Latif, Muhammad Zahid, Qureshi, Muhammad Atif, Mahmood, Saqib
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8950407/
https://www.ncbi.nlm.nih.gov/pubmed/35328057
http://dx.doi.org/10.3390/genes13030503

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