Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy
- 1 January 1993
- book chapter
- Published by Springer Nature
- Vol. 3, 37-84
- https://doi.org/10.1007/978-94-011-1528-5_3
Abstract
No abstract availableKeywords
This publication has 101 references indexed in Scilit:
- Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.Journal of Medical Genetics, 1992
- On a non‐invasive approach to prenatal diagnosis based on the detection of fetal nucleated cells in maternal blood samplesPrenatal Diagnosis, 1991
- The frequency of patients with dystrophin abnormalities in a limb‐girdle patient populationNeurology, 1991
- Human dystrophin expression in mdx mice after intramuscular injection of DNA constructsNature, 1991
- A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.Journal of Medical Genetics, 1991
- Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy geneGenomics, 1990
- Mutations in the catalytic domain of human coagulation factor IX: Rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behaviorGenomics, 1989
- Mosaic Expression of Dystrophin in Symptomatic Carriers of Duchenne's Muscular DystrophyNew England Journal of Medicine, 1989
- Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptideNature, 1988
- Germline mosaicism and Duchenne muscular dystrophy mutationsNature, 1987