TY - JOUR
T1 - Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine
T2 - glyoxylate aminotransferase gene
AU - Pirulli, Doroti
AU - Puzzer, Daniela
AU - Ferri, Laura
AU - Crovella, Sergio
AU - Amoroso, Antonio
AU - Ferrettini, Cristina
AU - Marangella, Martino
AU - Mazzola, Gina
AU - Florian, Fiorella
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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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U2 - 10.1007/s004390050998
DO - 10.1007/s004390050998
M3 - Article
C2 - 10453743
AN - SCOPUS:0032778022
VL - 104
SP - 523
EP - 525
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 6
ER -