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Article

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.

Human molecular genetics - 15 Nov 2014

Montioli Riccardo, Roncador Alessandro, Oppici Elisa, Mandrile Giorgia, Giachino Daniela Francesca, Cellini Barbara, Borri Voltattorni Carla

Abstract excerpt

Primary Hyperoxaluria type I (PH1) is a rare disease due to the deficit of peroxisomal alanine:glyoxylate aminotransferase (AGT), a homodimeric pyridoxal-5'-phosphate (PLP) enzyme present in humans as major (Ma) and minor (Mi) allele. PH1-causing mutations are mostly missense identified in both homozygous and compound heterozygous patients. Until now, the pathogenesis of PH1 has been only studied by approaches...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24990153
DOI: 10.1093/hmg/ddu329
PMCID: PMC4204775

Genes

AGT

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S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.PMID 24990153Read ↗

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