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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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Bibliografski detalji
Glavni autori: Nishimoto, J, Nanba, E, Inui, K, Okada, S, Suzuki, K
Format: Artigo
Jezik:Inglês
Izdano: 1991
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683129/
https://ncbi.nlm.nih.gov/pubmed/1909089
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