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

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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Bibliographic Details
Main Authors: Burhan M. Edrees, Mohammad Athar, Zainularifeen Abduljaleel, Faisal A Al-Allaf, Mohiuddin M. Taher, Wajahatullah Khan, Abdellatif Bouazzaoui, Naffaa Al-Harbi, Ramzia Safar, Howaida Al-Edressi, Khawala Alansary, Abulkareem Anazi, Naji Altayeb, Muawia A. Ahmed
Format: Article
Language:English
Published: Elsevier 2016-12-01
Series:Genomics Data
Subjects:
Polycystic kidney and hepatic disease 1 (PKHD1)
Autosomal recessive polycystic kidney disease (ARPKD)
Next generation sequencing (NGS)
Phylogenetic
Pathogenicity prediction
Online Access:http://www.sciencedirect.com/science/article/pii/S2213596016301635

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http://www.sciencedirect.com/science/article/pii/S2213596016301635

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