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 (author)

Peelman, F (author)

Farinelli, P (author)

show more...

Rosseel, T (author)

Lambrechts, N (author)

Wunderlich, KA (author)

Wagner, M (author)

Nikopoulos, K (author)

Martens, P (author)

Balikova, I (author)

Derycke, L (author)

Holtappels, G (author)

Krysko, O (author)

Van Laethem, T (author)

De Jaegere, S (author)

Guillemyn, B (author)

De Rycke, R (author)

De Bleecker, J (author)

Creytens, D (author)

Van Dorpe, J (author)

Gerris, J (author)

Bachert, C (author)

Karolinska Institutet

Neuhofer, C (author)

Walraedt, S (author)

Bischoff, A (author)

Pedersen, LB (author)

Klopstock, T (author)

Rivolta, C (author)

Leroy, BP (author)

De Baere, E (author)

Coppieters, F (author)

show less...

 (creator_code:org_t)

2020-02-12

2020

English.

In: Human mutation. - : Hindawi Limited. - 1098-1004 .- 1059-7794. ; 41:5, s. 998-1011

Related links:

https://onlinelibrar...

show more...

http://kipublication...

https://doi.org/10.1...

show less...

• Journal article (peer-reviewed)