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

Author:

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

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference30 articles.

1. Changing pattern of primary hyperoxaluria in Switzerland;Nephrol. Dial Transplant,1995

2. Epidemiology of primary hyperoxaluria type 1. Societe de Nephrologie and the Societe de Nephrologie Pediatrique;Nephrol. Dial Transplant,1995

3. Molecular aetiology of primary hyperoxaluria and its implications for clinical management;Expert. Rev. Mol. Med.,2004

4. An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1;Hum. Genet,1991

5. Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1;J. Mol. Biol.,2003

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