Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.

doi:10.1186/s12920-021-00996-x

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Article

Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.

BMC medical genomics - 3 Jun 2021

Murad Hossam, Alhalabi Mohamad Baseel, Dabboul Amir, Alfakseh Nour, Nweder Mohamad Sayah, Zghib Youssef, Wannous Hala

Abstract excerpt

BACKGROUND: Characterization of the molecular basis of primary hyperoxaluria type 1 (PH-1) in Syria has been accomplished through the analysis of 90 unrelated chromosomes from 45 Syrians patients with PH-1 from different regions. METHODS: Alanine glyoxylate aminotransferase (AGXT) gene mutations have been analyzed by using molecular detection methods based on the direct DNA sequencing for all exons of the AGXT...

Topics

Transaminases
Hyperoxaluria, Primary
Exons
Sequence Analysis, DNA
Mutation
Syria
Humans
Male
Female
Child, Preschool
Adolescent
Young Adult
Adult
Middle Aged

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Open in PubMed Open full text

Identifiers

PMID: 34082749
DOI: 10.1186/s12920-021-00996-x
PMCID: PMC8176596

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