Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patient...
Podrobná bibliografie
| Hlavní autoři: |
Snoeckx, Rikkert L.,
Huygen, Patrick L. M.,
Feldmann, Delphine,
Marlin, Sandrine,
Denoyelle, Françoise,
Waligora, Jaroslaw,
Mueller-Malesinska, Malgorzata,
Pollak, Agneszka,
Ploski, Rafal,
Murgia, Alessandra,
Orzan, Eva,
Castorina, Pierangela,
Ambrosetti, Umberto,
Nowakowska-Szyrwinska, Ewa,
Bal, Jerzy,
Wiszniewski, Wojciech,
Janecke, Andreas R.,
Nekahm-Heis, Doris,
Seeman, Pavel,
Bendova, Olga,
Kenna, Margaret A.,
Frangulov, Anna,
Rehm, Heidi L.,
Tekin, Mustafa,
Incesulu, Armagan,
Dahl, Hans-Henrik M.,
du Sart, Desirée,
Jenkins, Lucy,
Lucas, Deirdre,
Bitner-Glindzicz, Maria,
Avraham, Karen B.,
Brownstein, Zippora,
del Castillo, Ignacio,
Moreno, Felipe,
Blin, Nikolaus,
Pfister, Markus,
Sziklai, Istvan,
Toth, Timea,
Kelley, Philip M.,
Cohn, Edward S.,
Van Maldergem, Lionel,
Hilbert, Pascale,
Roux, Anne-Françoise,
Mondain, Michel,
Hoefsloot, Lies H.,
Cremers, Cor W. R. J.,
Löppönen, Tuija,
Löppönen, Heikki,
Parving, Agnete,
Gronskov, Karen,
Schrijver, Iris,
Roberson, Joseph,
Gualandi, Francesca,
Martini, Alessandro,
Lina-Granade, Geneviève,
Pallares-Ruiz, Nathalie,
Correia, Céu,
Fialho, Graça,
Cryns, Kim,
Hilgert, Nele,
Van de Heyning, Paul,
Nishimura, Carla J.,
Smith, Richard J. H.,
Van Camp, Guy |
|---|
| Médium: | Artigo
|
|---|
| Jazyk: | Inglês |
|---|
| Vydáno: |
The American Society of Human Genetics
2005
|
|---|
| Témata: | |
|---|
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1285178/
https://ncbi.nlm.nih.gov/pubmed/16380907
|
|---|
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|
|---|