Article

Molecular Analysis of the AGXT Gene Detected a Missense and Pathogenic Variant Associated with Primary Hyperoxaluria Type 1; a Case Study

2023-11-29

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Primary Hyperoxaluria Type 1 (PH1) is an autosomal recessive genetic disorder triggered by a mutation in the alanine glyoxylate aminotransferase (AGXT) gene. Early detection of PH1 is a pre-requisite as it causes End Stage Renal Disease (ESRD) in most patients in the early stages. An eleven years old girl with a history of kidney disease and stones and with pheno...

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Literature Corpus work: de1495eb-5686-5046-be93-9f41e76ce93b
DOI: 10.21203/rs.3.rs-3497631/v1

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