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.
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Mosna, G., Fattore, S., Tubiello, G. et al. A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient. Hum Genet 90, 247–250 (1992). https://doi.org/10.1007/BF00220071
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DOI: https://doi.org/10.1007/BF00220071