A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females

Duchenne/Becker muscular dystrophy (DMD/BMD) is a severe X-linked myopathy. In 65% of the patients, the mutations responsible for the disease are macrodeletions in the dystrophin-encoding gene that can be identified with multiplex polymerase chain reaction (PCR) technology. We developed a method for...

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Veröffentlicht in:	Molecular and cellular probes 1996-04, Vol.10 (2), p.129-137
Hauptverfasser:	Pastore, Lucio, Caporaso, Maria Gabriella, Frisso, Giulia, Orsini, Anna, Santoro, Lucio, Sacchetti, Lucia, Salvatore, Francesco
Format:	Artikel
Sprache:	eng
Schlagworte:	deletion carrier detection DNA Primers Duchenne muscular dystrophy Dystrophin - genetics Electrophoresis, Polyacrylamide Gel Female Genetic Carrier Screening Humans Muscular Dystrophies - classification Muscular Dystrophies - genetics Polymerase Chain Reaction - methods quantitative PCR Reference Values Regression Analysis Reproducibility of Results Sequence Deletion X Chromosome
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