Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families

PURPOSE: To investigate eight previously unreported Pakistani families with genetically undefined OCA for mutations in TYR. METHODS: Sanger sequencing of TYR has been performed in eight families with OCA phenotype. Mutation analysis was performed to establish the pathogenic role of novel mutation. B...

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Vydáno v:Eye (Lond)
Hlavní autoři: Shakil, Muhammad, Harlalka, Gaurav V., Ali, Shamshad, Lin, Siying, D’Atri, Ilaria, Hussain, Shabbir, Nasir, Abdul, Shahzad, Muhammad Aiman, Ullah, Muhammad Ikram, Self, Jay E., Baple, Emma L., Crosby, Andrew H., Mahmood, Saqib
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2019
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7005860/
https://ncbi.nlm.nih.gov/pubmed/30996339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41433-019-0436-9
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