Article
Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): a further possibility for distinguishing the two copies of the gene.
Human genetics - 1 Jul 1996
Hahnen E T, Wirth B
Abstract excerpt
An intragenic single-strand conformation polymorphism (SSCP) variant in exon 2a of the survival motor neuron gene (SMN) has been identified. The SSCP band shift is caused by a silent mutation (AGC-->AGT) at codon 28, which is the first codon of exon 2a. Five exchanges of base pairs at the 3'-end...
Topics
- Base Sequence
- Cyclic AMP Response Element-Binding Protein
- DNA Primers
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Muscular Atrophy, Spinal
- Mutation
- Nerve Tissue Proteins
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- RNA-Binding Proteins
- SMN Complex Proteins