We have studied, by the polymerase chain reaction, the β-galactosidase cDNA from several Italian patients with infantile GM1-gangliosidosis. One homozygote for a previously undiscovered G > A mutation at position 1479, causing an arginine to histidine change, was detected. The same mutation, in heterozygosis, was identified in 6 unrelated patients, but not in 100 normal chromosomes.
A HOMOZYGOUS MISSENSE ARGININE TO HISTIDINE SUBSTITUTION AT POSITION-482 OF THE BETA-GALACTOSIDASE IN AN ITALIAN INFANTILE GM1-GANGLIOSIDOSIS PATIENT / G. MOSNA, S. FATTORE, G. TUBIELLO, S. BROCCA, M. TRUBIA, E. GIANAZZA, R. GATTI, C. DANESINO, A. MINELLI, M. PIANTANIDA. - In: HUMAN GENETICS. - ISSN 0340-6717. - 90:3(1992), pp. 247-250.
A HOMOZYGOUS MISSENSE ARGININE TO HISTIDINE SUBSTITUTION AT POSITION-482 OF THE BETA-GALACTOSIDASE IN AN ITALIAN INFANTILE GM1-GANGLIOSIDOSIS PATIENT
E. GIANAZZA;M. PIANTANIDAUltimo
1992
Abstract
We have studied, by the polymerase chain reaction, the β-galactosidase cDNA from several Italian patients with infantile GM1-gangliosidosis. One homozygote for a previously undiscovered G > A mutation at position 1479, causing an arginine to histidine change, was detected. The same mutation, in heterozygosis, was identified in 6 unrelated patients, but not in 100 normal chromosomes.
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