Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
- Author
- BECKER, Jutta1 ; SEMLER, Oliver2 ; DE VRIES, Petra3 ; WIRTH, Brunhilde1 4 9 ; SCHOENAU, Eckhard2 ; WOLLNIK, Bernd1 10 4 ; VELTMAN, Joris A3 ; HOISCHEN, Alexander3 ; NETZER, Christian1 ; GILISSEN, Christian3 ; YUN LI1 4 ; JÖRN BOLZ, Hanno1 5 ; GIUNTA, Cecilia6 ; BERGMANN, Carsten5 7 ; ROHRBACH, Marianne6 ; KOERBER, Friederike8 ; ZIMMERMANN, Katharina1
[1] Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany
[2] Children's Hospital, University of Cologne, 50931 Cologne, Germany
[3] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, Netherlands
[4] Center of Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany
[5] Center for Human Genetics, Bioscientia, 55218 Ingelheim, Germany
[6] Division of Metabolism, Connective Tissue Unit, University Children's Hospital and Pediatric Research Center, 8032 Zurich, Switzerland
[7] Department of Human Genetics, RWTH Aachen University, 52074 Aachen, Germany
[8] Department of Radiology, University of Cologne, 50931 Cologne, Germany
[9] Institute of Genetics, University of Cologne, 50674 Cologne, Germany
[10] Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50674 Cologne, Germany - Source
American journal of human genetics. 2011, Vol 88, Num 3, pp 362-371, 10 p ; ref : 60 ref
- Publisher
- Cell Press, Cambridge, MA
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Caractère autosomique Caractère récessif Génétique Homme Maladie héréditaire Mutation Ostéogenèse imparfaite Séquence nucléotide Séquençage Ostéochondrodysplasie Pathologie du système ostéoarticulaire
- Keyword (en)
- Autosomal character Recessive character Genetics Human Genetic disease Mutation Osteogenesis imperfecta Nucleotide sequence Sequencing Osteochondrodysplasia Diseases of the osteoarticular system
- Keyword (es)
- Carácter autosómico Carácter recesivo Genética Hombre Enfermedad hereditaria Mutación Osteogénesis imperfecta Secuencia nucleótido Sequencing Osteocondrodisplasia Sistema osteoarticular patología
- 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 / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- 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 Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 24010065
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
10.1016/j.ajhg.2011.01.015 
https://dx.doi.org/10.1016/j.ajhg.2011.01.015
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