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Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

Three adult patients with acid beta-galactosidase deficiency/GM1 gangliosidosis who were from two unrelated families of Scandinavian descent were found to share a common point mutation in the coding region of the corresponding gene. The patients share common clinical features, including early dysart...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Chakraborty, S., Rafi, M. A., Wenger, D. A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1994
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918177/
https://ncbi.nlm.nih.gov/pubmed/8198123
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