Article
Molecular analysis of the Duchenne muscular dystrophy gene in Spanish individuals: deletion detection and familial diagnosis.
American journal of medical genetics - 6 Nov 1995
Patiño A, Narbona J, García-Delgado M
Abstract excerpt
Deletion studies were performed in 26 Duchenne muscular dystrophy (DMD) patients through amplification of nine different exons by multiplex polymerase chain reaction (PCR). DNA from paraffin-embedded muscle biopsies was analyzed in 12 of the 26 patients studied. Optimization of this technique is...
Topics
- Alleles
- Base Sequence
- DNA Primers
- Female
- Gene Deletion
- Genetic Carrier Screening
- Genetic Markers
- Humans
- Male
- Molecular Sequence Data
- Muscular Dystrophies
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid
- Spain
- X Chromosome