Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
- Author
- AUER-GRUMBACH, Michaela1 2 ; OLSCHEWSKI, Andrea3 ; STROHMAIER, Heimo7 ; LOCHMÜLLER, Hanns9 ; SCHLOTTER-WEIGEL, Beate10 ; SENDEREK, Jan11 ; KREBS, Angelika7 ; DICK, Katherine J6 ; PETTY, Richard12 ; LONGMAN, Cheryl13 ; ANDERSON, Neil E14 ; PADBERG, George W15 ; PAPIC, Lea1 ; SCHELHAAS, Helenius J15 ; VAN RAVENSWAAIJ-ARTS, Conny M. A16 ; PIEBER, Thomas R2 ; CROSBY, Andrew H6 ; GUELLY, Christian7 ; KREMER, Hannie4 5 ; MCENTAGART, Meriel E6 ; UHRIG, Sabine1 ; FISCHER, Carina7 ; FRÖHLICH, Eleonore7 ; BALINT, Zoltán3 ; BI TANG8
[1] Institute of Human Genetics, Medical University of Graz, Graz, Austria
[2] Department of Internal Medicine, Division of Endocrinology and Nuclear Medicine, Medical University of Graz, Graz, Austria
[3] Department of Anaesthesia and Intensive Care Medicine, Medical University of Graz, Graz, Austria
[4] Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
[5] Department of Otorhinolaryngology, Nijmegen Centre of Molecular Life Science and Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
[6] Medical Genetics, Clinical Developmental Sciences, St. George's University London, London, United Kingdom
[7] Center for Medical Research, Medical University of Graz, Graz, Austria
[8] University Clinic of Internal Medicine, Division of Pulmonology, Medical University of Graz, Graz, Austria
[9] Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
[10] Friedrich-Baur Institute and Department of Neurology, Ludwig-Maximilians University, Munich, Germany
[11] Institute of Cell Biology, ETH Zurich, Zurich, Switzerland
[12] Department of Neurology, Southern General Hospital, Glasgow, Scotland, United Kingdom
[13] Ferguson Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, Scotland, United Kingdom
[14] Neurology Department, Auckland City Hospital, Auckland, New Zealand
[15] Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
[16] Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands - Source
Nature genetics. 2010, Vol 42, Num 2, pp 160-164, 5 p ; ref : 29 ref
- Publisher
- Nature Publishing Group, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Altération Ankyrine Congénital Pathologie du système nerveux central
- Keyword (en)
- Alteration Ankyrin Congenital Central nervous system disease
- Keyword (es)
- Alteración Ankyrina Congénito Sistema nervosio central patología
- Classification
- 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
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22374704
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
10.1038/ng.508 
https://dx.doi.org/10.1038/ng.508
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