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

doi:10.1007/BF00220071

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

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article › peer-review

Abstract

We have studied, by the polymerase chain reaction, the β-galactosidase cDNA from several Italian patients with infantile G_M1-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 language	English
Pages (from-to)	247-250
Number of pages	4
Journal	Human Genetics
Volume	90
Issue number	3
DOIs	https://doi.org/10.1007/BF00220071
Publication status	Published - Nov 1992

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1007/BF00220071

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

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.",

author = "G. Mosna and S. Fattore and G. Tubiello and S. Brocca and M. Trubia and E. Gianazza and R. Gatti and C. Danesino and A. Minelli and M. Piantanida",

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doi = "10.1007/BF00220071",

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T1 - A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient

AU - Mosna, G.

AU - Fattore, S.

AU - Tubiello, G.

AU - Brocca, S.

AU - Trubia, M.

AU - Gianazza, E.

AU - Gatti, R.

AU - Danesino, C.

AU - Minelli, A.

AU - Piantanida, M.

PY - 1992/11

Y1 - 1992/11

N2 - 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.

AB - 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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JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 3

ER -

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

Abstract

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