Article
Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
Molecular and cellular probes - 1 Dec 1998
Cuevas J M, Espinós C, Millán J M, Sánchez F, Trujillo M J, García-Sandoval B, Ayuso C, Nájera C, Beneyto M
Abstract excerpt
A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VIIA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be resp...
Topics
- Codon, Terminator
- Cysteine
- DNA
- DNA Mutational Analysis
- Deafness
- Dyneins
- Exons
- Female
- Genes, Recessive
- Humans
- Male
- Middle Aged
- Mutation
- Myosin VIIa
- Myosins
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational