Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
CNGB3基因深内含子变异通过假外显子激活导致全色盲
期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.23920
Nicole Weisschuh ,Marc Sturm ,Britta Baumann ,Isabelle Audo ,Carmen Ayuso ,Beatrice Bocquet ,Kari Branham ,Brian P Brooks ,Jaume Catalá-Mora ,Roberto Giorda ,John R Heckenlively ,Robert B Hufnagel ,Samuel G Jacobson ,Ulrich Kellner ,Sofia Kitsiou-Tzeli ,Alexandre Matet ,Loreto Martorell Sampol ,Isabelle Meunier ,Günther Rudolph ,Dror Sharon ,Katarina Stingl ,Berthold Streubel ,Balázs Varsányi ,Bernd Wissinger ,Susanne Kohl