Article
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Clinical genetics - 1 Mar 2012
Ferri L, Guido C, la Marca G, Malvagia S, Cavicchi C, Fiumara A, Barone R, Parini R, Antuzzi D, Feliciani C, Zampetti A, Manna R, Giglio S, Della Valle C M, Wu X, Valenzano K J, Benjamin R, Donati M A, Guerrini R, Genuardi M, Morrone A
Abstract excerpt
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Fabry disease (FD) is an X-linked lysosomal storage disorder with a heterogeneous spectrum of clinical manifestations that are caused by the deficiency of α-galactosidase A (α-Gal-A) activity. Although useful for diagnosis in males, enzyme activity is not a reliable biochemical marker in heterozygous females due to random...
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