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Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity

BACKGROUND: GM1 gangliosidosis (GM1) is an autosomal recessive lysosomal storage disease caused by deficiency of acid beta-galactosidase (GLB1; EC3.2.1.23). Here, we identify three novel mutations in the GLB1 gene from two Han Chinese patients with GM1 that appear correlated with clinical phenotype....

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Yang, Chi-Fan, Wu, Jer-Yuarn, Tsai, Fuu-Jen
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2010
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2959015/
https://ncbi.nlm.nih.gov/pubmed/20920281
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1423-0127-17-79
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