| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8317864 | Clinical Biochemistry | 2012 | 6 Pages |
Abstract
⺠A 56-year-old female presented with three previous ischemic strokes over 15 years. ⺠Her family history revealed a high frequency of ischemic cerebrovascular events. ⺠The patient's alpha-galactosidase A activity in whole blood was 4.13 nmol/ml/h. ⺠Heterozygous single nucleotide point mutation at nucleotide c.550 T > A in exon 4. ⺠This is the first report of a point mutation at nucleotide-position 550 in exon 4.
Keywords
TIAsFOSCPBGL-3DBFPα-Gal AAFDGb33′ UTRcDNAComplementary DNAalpha-galactosidasealpha-galactosidase AMRIFabry Outcome SurveyAnderson–Fabry diseaseMagnetic resonance imagingcomputed tomographyTransient ischemic attacksCNSthree prime untranslated regioncentral nervous systempolyadenylation signalPASpolymerase chain reactionPCRglobotriaosylceramide
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Authors
Antonino Tuttolomondo, Giovanni Duro, Salvatore Miceli, Domenico Di Raimondo, Rosaria Pecoraro, Antonia Serio, Giuseppe Albeggiani, Domenico Nuzzo, Francesco Iemolo, Federica Pizzo, Serafina Sciarrino, Giuseppe Licata, Antonio Pinto,