Functional characterization of the first missense variant in CEP78 , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility
2020 | journal article. A publication with affiliation to the University of Göttingen.
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Functional characterization of the first missense variant in CEP78 , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility
Ascari, G.; Peelman, F.; Farinelli, P.; Rosseel, T.; Lambrechts, N.; Wunderlich, K. A. & Wagner, M. et al. (2020)
Human Mutation, 41(5) pp. 998-1011. DOI: https://doi.org/10.1002/humu.23993
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Details
- Authors
- Ascari, Giulia; Peelman, Frank; Farinelli, Pietro; Rosseel, Toon; Lambrechts, Nina; Wunderlich, Kirsten A.; Wagner, Matias; Nikopoulos, Konstantinos; Martens, Pernille; Balikova, Irina; Derycke, Lara; Holtappels, Gabriële; Krysko, Olga; Van Laethem, Thalia; De Jaegere, Sarah; Guillemyn, Brecht; De Rycke, Riet; De Bleecker, Jan; Creytens, David; Van Dorpe, Jo; Gerris, Jan; Bachert, Claus; Neuhofer, Christiane; Walraedt, Sophie; Bischoff, Almut; Pedersen, Lotte B.; Klopstock, Thomas; Rivolta, Carlo; Leroy, Bart P.; De Baere, Elfride; Coppieters, Frauke
- Issue Date
- 2020
- Journal
- Human Mutation
- ISSN
- 1059-7794
- eISSN
- 1098-1004
- ISSN
- 1059-7794
- eISSN
- 1098-1004
- Language
- English
- Sponsor
- Hercules Foundation http://dx.doi.org/10.13039/100012220
Carlsbergfondet http://dx.doi.org/10.13039/501100002808
Det Frie Forskningsråd http://dx.doi.org/10.13039/501100004836
Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung http://dx.doi.org/10.13039/501100001711
Fonds Wetenschappelijk Onderzoek http://dx.doi.org/10.13039/501100003130
