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]
- Journal of medical genetics May 2001
- E13 p. digital
Publication Type: Letter; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.38.5.e13 doi
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