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GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

GM1-gangliosidosis is a genetic neurological disorder caused by mutations in the lysosomal acid beta-galactosidase gene. While its phenotypic expression is complex, it is usually classified as being of infantile, juvenile, or adult form, on the basis of age at onset, the rate of symptomatic progress...

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Detalhes bibliográficos
Main Authors: Nishimoto, J, Nanba, E, Inui, K, Okada, S, Suzuki, K
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683129/
https://ncbi.nlm.nih.gov/pubmed/1909089
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