A quantitative-PCR protocol rapidly detects αGAL deletions/duplications in patients with Anderson-Fabry disease

Molecular Genetics and Metabolism

Volumn 105, Issue 4, 2012, Pages 687-689

  Marziliano, Nicola ^a,b   Sapere, Nadia ^a   Orsini, Francesco ^b   Motta, Valentina ^b   Veronese, Silvio ^b   Gambacorta, Marcello ^b   Merlini, Piera Angelica ^c   Intrieri, Mariano ^a  

^a UNIVERSITY OF MOLISE   (Italy)

^b Pathology Laboratory   (Italy)

^c OSPEDALE NIGUARDA CA GRANDA   (Italy)

Author keywords

Anderson Fabry disease; Galactosidase A; MLPA; Quantitative PCR

Indexed keywords

ALPHA GALACTOSIDASE;

ARTICLE; CONTROLLED STUDY; FABRY DISEASE; FEMALE; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; GENOMICS; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION;

ALPHA-GALACTOSIDASE; COHORT STUDIES; DNA; FABRY DISEASE; FEASIBILITY STUDIES; FEMALE; GENE DUPLICATION; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MIDDLE AGED; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 84858708401     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.01.012     Document Type: Article

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