Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan.

Raida Khalil Dema Ali Nesrin Mwafi Arwa Alsaraireh Loiy Obeidat Eman Albsoul Ibrahim Al Sbou'

Published in: BioMed research international (2021)

In this study, we confirmed that the most common variants in Jordanian AKU patients was c.365C>T, p. Ala122Val in exon 6 of HGD gene. Additionally, we correlated the clinical and genetic features of AKU patients at various ages (3-60 years).

Keyphrases

copy number
end stage renal disease
ejection fraction
genome wide
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
gene expression
patient reported outcomes
dna methylation
patient reported