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

doi:10.1007/s004390050998

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

IRCCS pediatrico Burlo Garofolo

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	523-525
Number of pages	3
Journal	Human Genetics
Volume	104
Issue number	6
DOIs	https://doi.org/10.1007/s004390050998
Publication status	Published - 1999

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine : glyoxylate aminotransferase gene. / Pirulli, Doroti; Puzzer, Daniela; Ferri, Laura; Crovella, Sergio; Amoroso, Antonio; Ferrettini, Cristina; Marangella, Martino; Mazzola, Gina; Florian, Fiorella.

In: Human Genetics, Vol. 104, No. 6, 1999, p. 523-525.

Research output: Contribution to journal › Article › peer-review

Pirulli, Doroti ; Puzzer, Daniela ; Ferri, Laura ; Crovella, Sergio ; Amoroso, Antonio ; Ferrettini, Cristina ; Marangella, Martino ; Mazzola, Gina ; Florian, Fiorella. / Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine : glyoxylate aminotransferase gene. In: Human Genetics. 1999 ; Vol. 104, No. 6. pp. 523-525.

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