Journal of medical genetics, 2003-01, Vol.40 (1), p.45-50
2003
Details
- Autor(en) / Beteiligte
- Titel
- Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene
- Ist Teil von
- Journal of medical genetics, 2003-01, Vol.40 (1), p.45-50
- Ort / Verlag
- England: BMJ Publishing Group Ltd
- Erscheinungsjahr
- 2003
- Link zum Volltext
- Quelle
- EZB-FREE-00999 freely available EZB journals
- Beschreibungen/Notizen
- [...]hearing is a complex process. Since a hearing defect might occur at any place along the auditory pathway, it would seem reasonable to expect to be able to differentiate types of NSRHL based on the location where the auditory process is disrupted. Subjects with this type of NSRAN are not helped by hearing aids but are helped by cochlear implants. Since approaches to treatment and remediation differ between AN and non-AN groups, finding the genetic cause of this NSRAN has important implications for diagnosis, newborn screening, and prognosis.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0022-2593, 1468-6244eISSN: 1468-6244DOI: 10.1136/jmg.40.1.45Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1735255
- Format
- –
- Schlagworte
- Adolescent, Adult, Amino Acid Sequence, auditory neuropathy, Base Sequence, Child, Child, Preschool, Cochlear implants, Deoxyribonucleic acid, DNA, Families & family life, Female, Genes, Genes, Recessive - genetics, Genetic Markers - genetics, Hearing aids, Hearing loss, Hearing Loss, Sensorineural - genetics, Hearing protection, Humans, Letter to JMG, Male, Membrane Proteins - genetics, Middle Aged, Molecular Sequence Data, Mutation, Mutation - genetics, otoacoustic emissions, otoferlin, Proteins, recessive non-syndromic hearing loss, Syndrome