Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes

A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified four potential pathogenic variants in PKHD1 gene [c.4870C ...

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Detalles Bibliográficos
Autores principales: Edrees, Burhan M., Athar, Mohammad, Abduljaleel, Zainularifeen, Al-Allaf, Faisal A, Taher, Mohiuddin M., Khan, Wajahatullah, Bouazzaoui, Abdellatif, Al-Harbi, Naffaa, Safar, Ramzia, Al-Edressi, Howaida, Alansary, Khawala, Anazi, Abulkareem, Altayeb, Naji, Ahmed, Muawia A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Regular Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099264/
https://www.ncbi.nlm.nih.gov/pubmed/27843768
http://dx.doi.org/10.1016/j.gdata.2016.10.009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099264/
https://www.ncbi.nlm.nih.gov/pubmed/27843768
http://dx.doi.org/10.1016/j.gdata.2016.10.009

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