Article
Functional studies of new GLA gene mutations leading to conformational Fabry disease.
Biochimica et biophysica acta - 1 Feb 2010
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
Abstract excerpt
Fabry Disease (FD) is an X-linked multisystemic lysosomal disorder caused by mutations of alpha-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 in FD patients which lead to alpha-galactosidase (GAL-A) amino acid substitutions or intronic changes can be...
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