Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Solaki, M., Baumann, B., Reuter, P., Andreasson, S., Audo, I., Ayuso, C., Balousha, G., Benedicenti, F., Birch, D., Bitoun, P., Blain, D., Bocquet, B., Branham, K., Català‐Mora, J., De Baere, E., Dollfus, H., Falana, M., Giorda, R., Golovleva, I., … Kohl, S. (2022). Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Human Mutation, 43(7), 832–858. Portico. https://doi.org/10.1002/humu.24371
Authors:
Maria Solaki
Britta Baumann
Peggy Reuter
Sten Andreasson
Isabelle Audo
Carmen Ayuso
Ghassan Balousha
Francesco Benedicenti
David Birch
Pierre Bitoun
Delphine Blain
Beatrice Bocquet
Kari Branham
Jaume Català-Mora
Elfride De Baere
Helene Dollfus
Mohammed Falana
Roberto Giorda
Irina Golovleva
Irene Gottlob
John R. Heckenlively
Samuel G. Jacobson
Kaylie Jones
Herbert Jägle
Andreas R. Janecke
Ulrich Kellner
Petra Liskova
Birgit Lorenz
Loreto Martorell-Sampol
André Messias
Isabelle Meunier
Fernanda Belga Ottoni Porto
Eleni Papageorgiou
Astrid S. Plomp
Thomy J. L. de Ravel
Charlotte M. Reiff
Agnes B. Renner
Thomas Rosenberg
Günther Rudolph
Roberto Salati
E. Cumhur Sener
Paul A. Sieving
Franco Stanzial
Elias I. Traboulsi
Stephen H. Tsang
Balázs Varsanyi
Richard G. Weleber
Ditta Zobor
Katarina Stingl
Bernd Wissinger
Susanne Kohl
Affiliated Authors:
Stephen H. Tsang
Columbia Affiliation:
Subjects:
Color Vision Defects (MeSH)
Cyclic Nucleotide-Gated Cation Channels (MeSH)
Author Keywords:
cnga3
achromatopsia
cyclic nucleotide-gated ion channel
in silico analysis
variant classification
variant spectrum
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Publication Type:
Article
Unique ID:
10.1002/humu.24371
PMID:
35332618
DOI:
10.1002/humu.24371
Journal:
Human Mutation
Publication Date:
Data Source:
Scopus
Source Link:
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