Article
Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.
Gene - 10 Oct 2016
Edrees Burhan M, Athar Mohammad, 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, Abduljaleel Zainularifeen
Abstract excerpt
Autosomal recessive polycystic kidney disease (ARPKD) a rare genetic disorder, described by formation of cysts in the kidney. A targeted customized sequencing of genes implicated in ARPKD phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified likely pathogenic disease causing variants during the validation process. Four potential...
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