Is standard GLA gene mutation analysis definitive for the diagnosis of Fabry disease?
Mignani
Renzo
R
Morrone
Amelia
A
D004252:DNA Mutational Analysis; D003951:Diagnostic Errors / Q000517:prevention & control; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics*; D000519:alpha-Galactosidase / Q000235:genetics*
D012333:RNA, Messenger; D000519:alpha-Galactosidase