WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations
- Author
- FRIEDRICH, Katrin1 ; LIN LEE3 ; GARCIA-F-VILLALTA, Maria J6 ; KETS, Carolien M7 ; SCHMIDTKE, Joerg8 ; TEDIM CRUZ, Vitor9 ; VAN DEN AKKER, Peter C10 ; BOAK, Joseph11 ; PETER, Dincy12 ; COMPOGINIS, Goli; CEFLE, Kivanc; OZTURK, Sukru; LEISTRITZ, Dru F3 ; LOPEZ, Norberto; WESSEL, Theda; POOT, Martin; IPPEL, P. F; GROFF-KELLERMANN, Birgit; HOEHN, Holger; MARTIN, George M3 ; KUBISCH, Christian1 ; OSHIMA, Junko3 ; NÜRNBERG, Gudrun2 ; SAHA, Bidisha3 ; HISAMA, Fuki M4 ; EYMAN, Daniel K3 ; LESSEL, Davor1 ; NÜRNBERG, Peter2 ; CHUMEI LI5
[1] Center for Molecular Medicine Cologne, Institute of Human Genetics, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
[2] Center for Molecular Medicine Cologne, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Cologne Centre For Genomics, University of Cologne, Cologne, Germany
[3] Department of Pathology, University of Washington, Box 357470, 1959 NE Pacific St., Seattle, WA 98195-7470, United States
[4] Department of Medicine, University of Wahsignton, Seattle, WA, United States
[5] Toronto General Hospital, Toronto, Canada
[6] Hospital de la Princesa, Madrid, Spain
[7] Radboud University, Nijmegen, Netherlands
[8] Institut für Humangenetik, Medizinische Hochschule, Hannover, Germany
[9] Hospital Sao Sebastiao, Santa Maria da Feira, Portugal
[10] Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands
[11] Riverview Medical Associates, Red Bank, NJ, United States
[12] Christian Medical College, Vellore, India - Source
Human genetics. 2010, Vol 128, Num 1, pp 103-111, 9 p ; ref : 1 p
- CODEN
- HUGEDQ
- ISSN
- 0340-6717
- Scientific domain
- Biotechnology; Genetics
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Altération Ethnie Génomique Génétique Homme Mutation Syndrome de Werner Maladie héréditaire Pathologie de l'oeil Pathologie de la peau
- Keyword (en)
- Alteration Ethnic group Genomics Genetics Human Mutation Werner syndrome Genetic disease Eye disease Skin disease
- Keyword (es)
- Alteración Etnia Genómica Genética Hombre Mutación Werner síndrome Enfermedad hereditaria Ojo patología Piel patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology / 002A04B Diverse techniques
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22946853
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
10.1007/s00439-010-0832-5 
https://dx.doi.org/10.1007/s00439-010-0832-5
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