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 language | English |
|---|---|
| Pages (from-to) | 247-250 |
| Number of pages | 4 |
| Journal | Human Genetics |
| Volume | 90 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Nov 1992 |
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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
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TY - JOUR
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.
UR - http://www.scopus.com/inward/record.url?scp=0026539980&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0026539980&partnerID=8YFLogxK
U2 - 10.1007/BF00220071
DO - 10.1007/BF00220071
M3 - Article
C2 - 1487238
AN - SCOPUS:0026539980
VL - 90
SP - 247
EP - 250
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 3
ER -