A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family. [electronic resource]
Producer: 20011018Description: E13 p. digitalISSN:- 1468-6244
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Child
- Cysteine -- genetics
- Deafness -- genetics
- Extracellular Matrix Proteins -- chemistry
- Female
- GPI-Linked Proteins
- Gene Frequency
- Genes, Dominant -- genetics
- Haplotypes -- genetics
- Humans
- Lod Score
- Male
- Membrane Glycoproteins -- chemistry
- Microsatellite Repeats -- genetics
- Molecular Sequence Data
- Mutation, Missense -- genetics
- Pedigree
- Phenotype
- Spain
- Zona Pellucida -- metabolism
No physical items for this record
Publication Type: Letter; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.