Molecular and clinical studies in five index cases with novel mutations in the GLA gene

Carmela Zizzo,Ines Monte,Antonio Pisani,Pasquale Fatuzzo,Eleonora Riccio,Margherita Stefania Rodolico,Paolo Colomba,Maurizio Uva,Giuseppe Cammarata,Riccardo Alessandro,Francesco Iemolo,Giovanni Duro

Gene（2016）

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摘要

Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chromosome (Xq21–22).

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关键词

FD,α-GAL A,GB3,Lyso-GB3,GLA,ND,DGJ,ISE

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