| Autor: |
Pirulli, Doroti, Puzzer, Daniela, Ferri, Laura, Crovella, Sergio, Amoroso, A., Ferrettini, Cristina, Marangella, Martino, Mazzola, Gina, Florian, Fiorella |
| Zdroj: |
Human Genetics; Jul1999, Vol. 104 Issue 6, p523-525, 3p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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