The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas
- Author
- UPADHYAYA, Meena1 ; SPURLOCK, Gill1 ; KLUWE, Lan2 ; CHUZHANOVA, Nadia3 ; BENNETT, Emma1 ; THOMAS, Nick1 ; GUHA, Abhijit4 ; MAUTNER, Victor2
[1] Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff Cf14 4XN, United Kingdom
[2] Laboratory for Tumor Biology and Developmental Disorders, Department of Maxillofacial Surgery, University Hospital Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
[3] Department of Biological Sciences, University of Central Lancashire, Preston, United Kingdom
[4] Hospital for Sick Children, University of Toronto, Western Hospital, Toronto, Ontario, Canada - Source
Neurogenetics (Oxford. Print). 2009, Vol 10, Num 3, pp 251-263, 13 p ; ref : 39 ref
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Germline Mitotic recombination NF1 Somatic Spinal neurofibromas Tumors
- Keyword (fr)
- Cellule somatique Génétique Homme Lignée germinale Malade Mitose Mutation somatique Neurofibromatose de Recklinghausen Neurofibrome Neurologie Pathologie du système nerveux Recombinaison Spectre Maladie héréditaire Pathologie de la peau Pathologie du système nerveux central Phacomatose Tumeur bénigne
- Keyword (en)
- Somatic cell Genetics Human Germ line Patient Mitosis Somatic mutation Neurofibromatosis Recklinghausen Neurofibroma Neurology Nervous system diseases Recombination Spectrum Genetic disease Skin disease Central nervous system disease Phacomatosis Benign neoplasm
- Keyword (es)
- Célula somática Genética Hombre Línea germinal Enfermo Mitosis Mutación somática Neurofibromatosis Recklinghausen Neurofibroma Neurología Sistema nervioso patología Recombinación Espectro Enfermedad hereditaria Piel patología Sistema nervosio central patología Facomatosis Tumor benigno
- 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 / 002A Fundamental and applied biological sciences. Psychology / 002A25 Vertebrates: nervous system and sense organs
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17E Tumors of the nervous system. Phacomatoses
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology Neurology Vertebrates : nervous system and sense organs
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 21639977
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/s10048-009-0178-0 
https://dx.doi.org/10.1007/s10048-009-0178-0
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