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

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

Author: 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
Published in: Human Mutation (2018), Bd. 39, H. 10, S. 1366-1371
Verlagsangabe: Wiley
Language: English
Full text: http://dx.doi.org/10.1002/humu.23606
ISSN: 1098-1004
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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