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β-Galactosidase deficiency in a Korat cat: a new form of feline GM1-gangliosidosis

✍ Scribed by Raffaella De Maria; Sara Divari; Stefano Bo; Sandro Sonnino; Donatella Lotti; Maria T. Capucchio; M. Castagnaro

Publisher: Springer-Verlag
Year: 1998
Tongue: English
Weight: 522 KB
Volume: 96
Category: Article
ISSN: 0001-6322
DOI: 10.1007/s004010050899

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We have studied, by the polymerase chain reaction, the beta-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 h