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.

Moreno-Pelayo, M A

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