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

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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.

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Authors and Affiliations

  1. Cattedra e Servizio di Genetica Medica, IRCCS Burlo Garofolo e Università di Trieste, Italy, , , , , , IT

    Doroti Pirulli, Daniela Puzzer, Laura Ferri, Sergio Crovella & A. Amoroso

  2. Laboratorio Calcolosi Renale, Ospedale Mauriziano Umberto I, Torino, Italy, , , , , , IT

    Cristina Ferrettini & Martino Marangella

  3. Servizio di Immunologia dei Trapianti, Ospedale S. Giovanni Battista di Torino, Italy, , , , , , IT

    Gina Mazzola

  4. Dipartimento di Biologia, Università di Trieste, Italy, , , , , , IT

    Fiorella Florian

Authors
  1. Doroti Pirulli
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  2. Daniela Puzzer
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  3. Laura Ferri
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  4. Sergio Crovella
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  5. A. Amoroso
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  6. Cristina Ferrettini
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  7. Martino Marangella
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  8. Gina Mazzola
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  9. Fiorella Florian
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Received: 5 January 1999 / Accepted: 12 April 1999

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Pirulli, D., Puzzer, D., Ferri, L. et al. Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine : glyoxylate aminotransferase gene. Hum Genet 104, 523–525 (1999). https://doi.org/10.1007/s004390050998

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  • DOI: https://doi.org/10.1007/s004390050998

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