Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss

Eur Arch Otorhinolaryngol. 2016 May;273(5):1327-8. doi: 10.1007/s00405-015-3782-7. Epub 2015 Sep 25.

Authors

Urszula Lechowicz¹, Agnieszka Pollak¹, Dominka Oziębło¹, Monika Ołdak²

Affiliations

¹ Department of Genetics, Institute of Physiology and Pathology of Hearing, M. Mochnackiego 10, 02-042, Warsaw, Poland.
² Department of Genetics, Institute of Physiology and Pathology of Hearing, M. Mochnackiego 10, 02-042, Warsaw, Poland. m.oldak@ifps.org.pl.

No abstract available

Publication types

Letter
Comment

MeSH terms

Connexin 26
Connexins / genetics
Deafness*
Hearing Loss*
Hearing Loss, Sensorineural
Humans
Mutation

Substances

Connexins
GJB2 protein, human
Connexin 26