title: A quantitative-PCR protocol rapidly detects αGAL deletions/duplications in patients with Anderson-Fabry disease.
abstract: The Anderson-Fabry disease (AFD) is an X-linked glycosphingolipidosis leading to a progressive systemic disease. A particular variant of the disease of AFD presents only with left ventricular hypertrophy (LVH). Molecular diagnosis with bidirectional sequencing fails to detect genomic re-arrangements in female patients because of the presence of the wt allele. We here propose a quantitative PCR-based method alternative/complementary to the MLPA.
authors.affiliation: Health Sciences Department, University of Molise, Campobasso, Italy. Nicola.marziliano@ospedaleniguarda.it
authors.forename: Nicola
authors.initials: N
authors.lastname: Marziliano
authors.forename: Nadia
authors.initials: N
authors.lastname: Sapere
authors.forename: Francesco
authors.initials: F
authors.lastname: Orsini
authors.forename: Valentina
authors.initials: V
authors.lastname: Motta
authors.forename: Silvio
authors.initials: S
authors.lastname: Veronese
authors.forename: Marcello
authors.initials: M
authors.lastname: Gambacorta
authors.forename: Piera Angelica
authors.initials: PA
authors.lastname: Merlini
authors.forename: Mariano
authors.initials: M
authors.lastname: Intrieri
mesh_terms: D015331:Cohort Studies; D004247:DNA / Q000032:analysis / Q000235:genetics; D000795:Fabry Disease / Q000235:genetics*; D005240:Feasibility Studies; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000235:genetics*; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D004247:DNA; D000519:alpha-Galactosidase