Multiplex PCR: optimization and application in diagnostic virology
EM Elnifro, AM Ashshi, RJ Cooper… - Clinical microbiology …, 2000 - Am Soc Microbiol
SUMMARY PCR has revolutionized the field of infectious disease diagnosis. To overcome
the inherent disadvantage of cost and to improve the diagnostic capacity of the test …
the inherent disadvantage of cost and to improve the diagnostic capacity of the test …
Duchenne and Becker muscular dystrophies
KM Flanigan - Neurologic clinics, 2014 - neurologic.theclinics.com
The X-linked Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic
disorders occurring due to mutations in the DMD gene, which consists of 79 exons encoding …
disorders occurring due to mutations in the DMD gene, which consists of 79 exons encoding …
Multiplex PCR: critical parameters and step-by-step protocol
O Henegariu, NA Heerema, SR Dlouhy, GH Vance… - …, 1997 - Taylor & Francis
By simultaneously amplifying more than one locus in the same reaction, multiplex PCR is
becoming a rapid and convenient screening assay in both the clinical and the research …
becoming a rapid and convenient screening assay in both the clinical and the research …
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
AH Beggs, M Koenig, FM Boyce, LM Kunkel - Human genetics, 1990 - Springer
We describe oligonucleotide primer sequences that can be used to amplify eight exons plus
the muscle promoter of the dystrophin gene in a single multiplex polymerase chain reaction …
the muscle promoter of the dystrophin gene in a single multiplex polymerase chain reaction …
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
KM Flanigan, DM Dunn, A Von Niederhausern… - Human …, 2009 - Wiley Online Library
Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the
dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy …
dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy …
Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe.
M Matsuo, T Masumura, H Nishio… - The Journal of …, 1991 - Am Soc Clin Investig
Recent molecular studies have shown that in a patient with Duchenne muscular dystrophy
(DMD) Kobe, the size of exon 19 of the dystrophin gene was reduced to 36 bp due to the …
(DMD) Kobe, the size of exon 19 of the dystrophin gene was reduced to 36 bp due to the …
Exon structure of the human dystrophin gene
RG Roberts, AJ Coffey, M Bobrow, DR Bentley - Genomics, 1993 - Elsevier
Application of a novel vectorette PCR approach to defining intron-exon boundaries has
permitted completion of analysis of the exon structure of the largest and most complex …
permitted completion of analysis of the exon structure of the largest and most complex …
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies
L Politano, V Nigro, G Nigro, VR Petretta, L Passamano… - Jama, 1996 - jamanetwork.com
Objective.—To characterize the presence and behavior of the dystrophinopathic myocardial
damage in female carriers of a gene defect at theXp21locus of the X chromosome that …
damage in female carriers of a gene defect at theXp21locus of the X chromosome that …
Amplification of nucleic acids by polymerase chain reaction (PCR) and other methods and their applications
AK Bej, MH Mahbubani, RM Atlas - Critical reviews in biochemistry …, 1991 - Taylor & Francis
The in vitro replication of DNA, principally using the polymerase chain reaction (PCR),
permits the amplification of defined sequences of DNA. By exponentially amplifying a target …
permits the amplification of defined sequences of DNA. By exponentially amplifying a target …
Human myoblast transplantation: preliminary results of 4 cases
J Huard, JP Bouchard, R Roy, F Malouin… - Muscle & Nerve …, 1992 - Wiley Online Library
Myoblasts from immunocompatible donors have been transplanted into the muscles (tibialis
anterior, biceps brachii, and/or extensor carpi radialis longus) of 4 Duchenne patients in the …
anterior, biceps brachii, and/or extensor carpi radialis longus) of 4 Duchenne patients in the …