Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
- Author
- OSTERGAARD, E1 ; BATBAYLI, M1 ; DUNO, M1 ; VILHELMSEN, K2 ; ROSENBERG, T3
[1] Department of Clinical Genetics, National University Hospital Rigshospitalet, Copenhagen, Denmark
[2] Department of Ophthalmology, Faroese National Hospital, Tórshavn, Faroe Islands, Denmark
[3] Gordon Norrie Center for Genetic Eye Diseases, National Eye Clinic, Kennedy Center, Glostrup, Denmark - Source
Journal of medical genetics. 2010, Vol 47, Num 10, pp 665-669, 5 p ; ref : 21 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Caractère autosomique Caractère récessif Dégénérescence rétinienne héréditaire des cônes et des bâtonnets Génétique Homme Maladie héréditaire Mutation Pathologie de l'oeil Rétinopathie
- Keyword (en)
- Autosomal character Recessive character Rods and cones retinal degeneration Genetics Human Genetic disease Mutation Eye disease Retinopathy
- Keyword (es)
- Carácter autosómico Carácter recesivo Degeneración retiniana hereditaria conos y bastones Genética Hombre Enfermedad hereditaria Mutación Ojo patología Retinopatía
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09I Retinopathies
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Ophthalmology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 23328094
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1136/jmg.2009.069120 
https://dx.doi.org/10.1136/jmg.2009.069120
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