Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

Weisschuh, Nicole; Stingl, Katarina; Audo, Isabelle; Biskup, Saskia; Bocquet, Beatrice; Branham, Kari; Burstedt, Marie S.; De Baere, Elfride; De Vries, Meindert J.; Golovleva, Irina; Green, Andrew; Heckenlively, John; Leroy, Bart P.; Meunier, Isabelle; Traboulsi, Elias; Wissinger, Bernd; Kohl, Susanne

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

Autor(en):

Weisschuh, Nicole; Stingl, Katarina; Audo, Isabelle; Biskup, Saskia; Bocquet, Beatrice; Branham, Kari; Burstedt, Marie S.; De Baere, Elfride; De Vries, Meindert J.; Golovleva, Irina; Green, Andrew; Heckenlively, John; Leroy, Bart P.; Meunier, Isabelle; Traboulsi, Elias; Wissinger, Bernd; Kohl, Susanne

Tübinger Autor(en):

Weisschuh, Nicole
Wissinger, Bernd
Kohl, Susanne
Štingl, Katarína

Erschienen in:

Human Mutation (2018), Bd. 39, H. 10, S. 1366-1371

Verlagsangabe:

Wiley

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1002/humu.23606

ISSN:

1098-1004