Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.

Intisar Al AlawiElisa MolinariIssa Al SalmiFatma Al RahbiAdhra Al MawaliJohn A Sayer

Published in: BMC nephrology (2020)

Molecular genetic screening of PKHD1 in clinically suspected ARPKD cases produced a high diagnostic rate. The limited number of PKHD1 missense variants identified in ARPKD cases suggests these may be common founder alleles in the Omani population. Cost effective targeted PCR analysis of these specific alleles can be a useful diagnostic tool for future cases of suspected ARPKD in Oman.

Keyphrases

polycystic kidney disease
copy number
genome wide
pulmonary embolism
intellectual disability
cancer therapy
gene expression
current status
dna methylation
single molecule
drug delivery
muscular dystrophy
duchenne muscular dystrophy