Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene

Doroti Pirulli, Daniela Puzzer, Laura Ferri, Sergio Crovella, Antonio Amoroso, Cristina Ferrettini, Martino Marangella, Gina Mazzola, Fiorella Florian

Research output: Contribution to journalArticlepeer-review

Abstract

Systematic screening using the SSCP technique followed by sequencing of bands with abnormal mobility derived from the AGXT exons of 15 unrelated Italian patients with primary hyperoxaluria type 1 (PH1) allowed us to characterize both the mutant alleles in each individual. Eight new mutations were identified: C155del, C156ins, G244T, C252T, GAG408ins, G468A, G588A and G1098del. This study demonstrates both the effectiveness of the screening strategy chosen to identify all the mutant alleles and the high degree of allelic heterogeneity in PH1.

Original languageEnglish
Pages (from-to)523-525
Number of pages3
JournalHuman Genetics
Volume104
Issue number6
DOIs
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene'. Together they form a unique fingerprint.

Cite this