In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype

AIM: To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation. METHODS: A consanguineous Pakistani family in which Usher phenotype was segregating as an autosomal recessive trait was ascertain...

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Detalhes bibliográficos
Publicado no:Int J Ophthalmol
Main Authors: Saleha, Shamim, Ajmal, Muhammad, Jamil, Muhammad, Nasir, Muhammad, Hameed, Abdul
Formato: Artigo
Idioma:Inglês
Publicado em: International Journal of Ophthalmology Press 2016
Assuntos:
Basic Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4886895/
https://ncbi.nlm.nih.gov/pubmed/27275418
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2016.05.04
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