title: A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.
abstract: 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 heterozygosis, was identified in 6 unrelated patients, but not in 100 normal chromosomes.
authors: Dipartimento di Genetica e di Biologia dei Microrganismi, Università di Milano, Italy.
authors: G
authors: G
authors: Mosna
authors: S
authors: S
authors: Fattore
authors: G
authors: G
authors: Tubiello
authors: S
authors: S
authors: Brocca
authors: M
authors: M
authors: Trubia
authors: E
authors: E
authors: Gianazza
authors: R
authors: R
authors: Gatti
authors: C
authors: C
authors: Danesino
authors: A
authors: A
authors: Minelli
authors: M
authors: M
authors: Piantanida
mesh_terms: D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004277:DNA, Single-Stranded; D016537:Gangliosidosis, GM1 / Q000235:genetics*; D006639:Histidine / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics; D001616:beta-Galactosidase / Q000235:genetics*
chemical_list: D004277:DNA, Single-Stranded; D012333:RNA, Messenger; D006639:Histidine; D001120:Arginine; D001616:beta-Galactosidase