Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
- Author
- JOSE MARTINEZ, Fernando1 ; JEONG HO LEE1 ; JI EUN LEE1 ; BLANCO, Sandra2 ; NICKERSON, Elizabeth3 ; GABRIEL, Stacey3 ; FRYE, Michaela2 ; AL-GAZALI, Lihadh4 ; GLEESON, Joseph G1
[1] Department of Neurosciences and Pediatrics, Neurogenetics Laboratory, Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, California, United States
[2] Wellcome Trust Centre for Stem Cell Research, University of Cambridge, Cambridge, United Kingdom
[3] The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States
[4] Department of Paediatrics Faculty of Medicine & Health Sciences United Arab Emirates University Al Ain, United Arab Emirates - Source
Journal of medical genetics. 2012, Vol 49, Num 6, pp 380-385, 6 p ; ref : 17 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Epissage Génétique Mutation Syndrome de Dubowitz Séquence nucléotide Séquençage Syndrome complexe
- Keyword (en)
- Splicing Genetics Mutation Dubowitz syndrome Nucleotide sequence Sequencing Complex syndrome
- Keyword (es)
- Empalme Genética Mutación Dubowitz síndrome Secuencia nucleótido Sequencing Síndrome complejo
- 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
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26011072
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/jmedgenet-2011-100686 
https://dx.doi.org/10.1136/jmedgenet-2011-100686
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