An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Bonnet, Crystel; Riahi, Zied; Chantot-Bastaraud, Sandra; Smagghe, Luce; Letexier, Melanie; Marcaillou, Charles; Lefevre, Gaelle M.; Hardelin, Jean-Pierre; El-Amraoui, Aziz; Singh-Estivalet, Amrit; Mohand-Said, Saddek; Kohl, Susanne; Kurtenbach, Anne; Sliesoraityte, Ieva; Zobor, Ditta; Gherbi, Souad; Testa, Francesco; Simonelli, Francesca; Banfi, Sandro; Fakin, Ana; Glavac, Damjan; Jarc-Vidmar, Martina; Zupan, Andrej; Battelino, Saba; Martorell Sampol, Loreto; Antonia Claveria, Maria; Catala Mora, Jaume; Dad, Shzeena; Moller, Lisbeth B.; Rodriguez Jorge, Jesus; Hawlina, Marko; Auricchio, Alberto; Sahel, Jose-Alain; Marlin, Sandrine; Zrenner, Eberhart; Audo, Isabelle; Petit, Christine

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Autor(en):

Bonnet, Crystel; Riahi, Zied; Chantot-Bastaraud, Sandra; Smagghe, Luce; Letexier, Melanie; Marcaillou, Charles; Lefevre, Gaelle M.; Hardelin, Jean-Pierre; El-Amraoui, Aziz; Singh-Estivalet, Amrit; Mohand-Said, Saddek; Kohl, Susanne; Kurtenbach, Anne; Sliesoraityte, Ieva; Zobor, Ditta; Gherbi, Souad; Testa, Francesco; Simonelli, Francesca; Banfi, Sandro; Fakin, Ana; Glavac, Damjan; Jarc-Vidmar, Martina; Zupan, Andrej; Battelino, Saba; Martorell Sampol, Loreto; Antonia Claveria, Maria; Catala Mora, Jaume; Dad, Shzeena; Moller, Lisbeth B.; Rodriguez Jorge, Jesus; Hawlina, Marko; Auricchio, Alberto; Sahel, Jose-Alain; Marlin, Sandrine; Zrenner, Eberhart; Audo, Isabelle; Petit, Christine

Tübinger Autor(en):

Kohl, Susanne
Kurtenbach, Anne
Sliesoraityte, Ieva
Zobor, Ditta
Zrenner, Eberhart

Erschienen in:

European Journal of Human Genetics (2016), Bd. 24, H. 12, S. 1730-1738

Verlagsangabe:

Nature Publishing Group

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1038/ejhg.2016.99

ISSN:

1476-5438