Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.

Hoda A AhmedFatina I FadelMohamed A Abd AlmawlaDoaa M SalahMohamed Gamal FathallahKhalda Sayed Amr

Published in: Molecular genetics & genomic medicine (2022)

Our results extend the number of AGXT mutations identified so far and emphasize the important role of genetic testing in providing proper counseling and patients management.

Keyphrases

end stage renal disease
copy number
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
peritoneal dialysis
bioinformatics analysis
gene expression
hepatitis c virus
cell free