Article
Carrier detection in DMD families with point mutations, using PCR-SSCP and direct sequencing.
Neuromuscular disorders : NMD - 1 Jan 2000
Lenk U, Hanke R, Speer A
Abstract excerpt
Non-isotopic single-strand conformation polymorphism (SSCP) and direct sequencing was used for carrier diagnosis in four families of DMD/BMD patients with previously characterized point mutations, leading to the identification of eight carriers and four non-carriers. When the mutation caused a di...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- DNA
- Exons
- Female
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Muscular Dystrophies
- Nucleic Acid Conformation
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction