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 |
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Pages (from-to) | 247-250 |
Number of pages | 4 |
Journal | Human Genetics |
Volume | 90 |
Issue number | 3 |
DOIs | |
Publication status | Published - Nov 1992 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics