FUNCTIONAL STUDIES OF NEW GLA GENE MUTATIONS LEADING TO CONFORMATIONAL FABRY DISEASE

Fabry Disease (FD) is an X-linked multisystemic lysosomal disorder caused by mutations of α-galactosidase (GLA) gene. Only a few of the 450 genetic lesions identified so far have been characterised by in vitro expression studies. Thus the significance of newly identified GLA nucleotide variants sin...

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Main Authors: Filoni, C., Caciotti, A., Carraresi, L., Cavicchi, C., Parini, R., Antuzzi, D., Zampetti, A., Feriozzi, S., Poisetti, P., Garman, S.C., Guerrini, R., Zammarchi, E., Donati, M.A., Morrone, A.
Formato: Artigo
Idioma:Inglês
Publicado: 2009
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3056268/
https://ncbi.nlm.nih.gov/pubmed/19941952
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2009.11.003
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