Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.

We have identified and characterized three missense mutations in a patient with type 1 G(M1) gangliosidosis, namely a substitution of G for A at nucleotide position 1044 (G1044-->A; in exon 10) on one allele, which converts Asp(332) into asparagine, and both a mutation (C492-->A in exon 4, lea...

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Autors principals: Zhang, S, Bagshaw, R, Hilson, W, Oho, Y, Hinek, A, Clarke, J T, Callahan, J W
Format: Artigo
Idioma:Inglês
Publicat: 2000
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1221106/
https://ncbi.nlm.nih.gov/pubmed/10839995
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