- Title
- Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
- Creators - without role
- Nicole Weisschuh - STZ eyetrialMarc Sturm - University of TübingenBritta Baumann - STZ eyetrialIsabelle Audo - Centre hospitalier national d'ophtalmologie des Quinze-VingtsCarmen Ayuso - Centre for Biomedical Network Research on Rare DiseasesBeatrice Bocquet - Université de Montpellier, Institut des Neurosciences de Montpellier - INMKari Branham - University of Michigan–Ann ArborBrian Brooks - National Eye InstituteJaume Catalá-Mora - Hospital Sant Joan de Déu BarcelonaRoberto Giorda - IRCCS Eugenio MedeaJohn Heckenlively - University of Michigan–Ann ArborRobert Hufnagel - National Eye InstituteSamuel Jacobson - Penn Presbyterian Medical CenterUlrich KellnerSofia Kitsiou-Tzeli - National and Kapodistrian University of AthensAlexandre Matet - University of LausanneLoreto Martorell SampolIsabelle Meunier - Université de Montpellier, Institut des Neurosciences de Montpellier - INMGünther Rudolph - Ludwig-Maximilians-Universität MünchenDror Sharon - Hadassah Medical CenterKatarina Stingl - University of TübingenBerthold Streubel - Medical University of ViennaBalázs Varsányi - Semmelweis UniversityBernd Wissinger - STZ eyetrialSusanne Kohl - STZ eyetrial
- Publication Details
- Human Mutation, Vol.41(1), pp.255-264
- Identifiers
- 9939793009311
- Academic Unit
- Institut des Neurosciences de Montpellier - INM
- Language
- English
- Resource Type
- Journal article
- Local Fields
- hal-04958904
Journal article
Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
Human Mutation, Vol.41(1), pp.255-264
30/09/2019
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