A homozygous missense arginine to histidine substitution at position 482 of the β-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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)247-250
Number of pages4
JournalHuman Genetics
Volume90
Issue number3
DOIs
Publication statusPublished - Nov 1992

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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