✦ LIBER ✦

A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient

✍ Scribed by G. Mosna; S. Fattore; G. Tubiello; S. Brocca; M. Trubia; E. Gianazza; R. Gatti; C. Danesino; A. Minelli; M. Piantanida

Publisher: Springer
Year: 1992
Tongue: English
Weight: 494 KB
Volume: 90
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00220071

No coin nor oath required. For personal study only.

✦ Synopsis

We have studied, by the polymerase chain reaction, the beta-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.