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M. McPherson, B. Hames, G. Taylor (2016)
PCR 2 : a practical approach
S. Kowalewski, H. Rotthauwe, E. Mölbert, M. Mumenthaler (1966)
Female carriers of muscular dystrophy.Lancet, 1 7448
(1990)
Multiplex PCR for the diagnosis of Duchenne muscular dystrophy
J. Dunnen, E. Bakker, E. Breteler, P. Pearson, G. Ommen (1987)
Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gelsNature, 329
(1984)
Biostatistical analysis
P. Clemens, R. Fenwick, J. Chamberlain, R. Gibbs, M. Andrade, Ranajit Chakraborty, C. Caskey (1991)
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.American journal of human genetics, 49 5
Xiuyuan Hu, P. Ray, E. Murphy, M. Thompson, R. Worton (1990)
Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.American journal of human genetics, 46 4
(1997)
Asymptomatic dystrophino - pathy
(1986)
Alterna - tive methods for gene diagnosis
R. Roberts (1995)
6 Dystrophin, Its Gene, and the DystrophinopathiesAdvances in Genetics, 33
K. Boylan (1990)
Duchenne muscular dystrophy manifesting carriers.Archives of neurology, 47 9
J. Chamberlain, R. Gibbs, J. Ranier, C. Caskey (1990)
33 – MULTIPLEX PCR FOR THE DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY
R. Hennekam, H. Veenema, E. Bakker, F. Jennekens, E. Velde, J. Pater (1989)
A male carrier for Duchenne muscular dystrophy.American journal of human genetics, 44 4
R. Roberts (1995)
Dystrophin, its gene, and the dystrophinopathies.Advances in genetics, 33
S. Sinha, S. Mishra, V. Singh, R. Mittal, B. Mittal (1996)
High frequency of new mutations in North Indian Duchenne/Becker muscular dystrophy patientsClinical Genetics, 50
R. Richards, K. Friend, E. Haan (1992)
Informative microsatellite markers allow carrier detection in a Duchenne muscular dystrophy deletion pedigree in the absence of DNA from an affected boy.American journal of human genetics, 50 2
Bernd Brinkmann, A. Junge, E. Meyer, P. Wiegand (1998)
Population genetic diversity in relation to microsatellite heterogeneityHuman Mutation, 11
Duchenne and Becker muscular dystrophies are among the most severe and frequent inherited disorders. Being still incurable, medical treatment is concentrated on the carrier diagnosis of the members of the affected families. Here we report the results of the studies of 151 members of 41 Hungarian families, obtained with multiplex PCR amplification of 18 exons as well as the muscle specific promoter region, and haplotype analysis of two polymorphic (CA)n repeat microsatellite loci in introns 45 and 49 of the dystrophin gene. The analysis of 15 deletion‐type families revealed a frequency of new mutations not differing significantly from that in the other regions of Europe. We also compared the allele distributions of the two microsatellites in randomly selected normal individuals and affected family members. The allele distribution of STRP45 shows interesting differences between the two populations.
Annals of Human Genetics – Wiley
Published: Jan 1, 1998
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