GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.

A single nucleotide transition within exon 5 of the beta-hexosaminidase alpha chain gene was identified in a Puerto Rican patient with GM2-gangliosidosis B1 variant as the mutation responsible for the unusual enzymological characteristics of this variant (G533----A; Arg178----His) (the DN-allele). A...

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Main Authors: Tanaka, A, Ohno, K, Sandhoff, K, Maire, I, Kolodny, E H, Brown, A, Suzuki, K
Formato: Artigo
Idioma:Inglês
Publicado: 1990
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684994/
https://ncbi.nlm.nih.gov/pubmed/2137287
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