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Article

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

American journal of human genetics - 1 Feb 1990

Tanaka A, Ohno K, Sandhoff K, Maire I, Kolodny E H, Brown A, Suzuki K

Abstract excerpt

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 total of seven patients with enzymological characteristics of B1 variant have since been studied. They were Puerto...

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PMID: 2137287
PMCID: PMC1684994

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