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 journal › Article

19 Citations (Scopus)

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

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GM1 Gangliosidosis
Galactosidases
Histidine
Arginine
Mutation
Homozygote
Complementary DNA
Chromosomes
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient. / Mosna, G.; Fattore, S.; Tubiello, G.; Brocca, S.; Trubia, M.; Gianazza, E.; Gatti, R.; Danesino, C.; Minelli, A.; Piantanida, M.

In: Human Genetics, Vol. 90, No. 3, 11.1992, p. 247-250.

Research output: Contribution to journal › Article

Mosna, G, Fattore, S, Tubiello, G, Brocca, S, Trubia, M, Gianazza, E, Gatti, R, Danesino, C, Minelli, A & Piantanida, M 1992, 'A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient', Human Genetics, vol. 90, no. 3, pp. 247-250. https://doi.org/10.1007/BF00220071
Mosna G, Fattore S, Tubiello G, Brocca S, Trubia M, Gianazza E et al. A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient. Human Genetics. 1992 Nov;90(3):247-250. https://doi.org/10.1007/BF00220071
Mosna, G. ; Fattore, S. ; Tubiello, G. ; Brocca, S. ; Trubia, M. ; Gianazza, E. ; Gatti, R. ; Danesino, C. ; Minelli, A. ; Piantanida, M. / A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient. In: Human Genetics. 1992 ; Vol. 90, No. 3. pp. 247-250.
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AU - Brocca, S.

AU - Trubia, M.

AU - Gianazza, E.

AU - Gatti, R.

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AU - Minelli, A.

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