Pascal and Francis Bibliographic Databases

Help

Export

Selection :

Permanent link
http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20561713

A novel genomic disorder : a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix-Saguenay

Author
BRECKPOT, Jeroen1 ; TAKIYAMA, Yoshihisa2 ; THIENPONT, Bernard1 ; VAN VOOREN, Steven3 ; VERMEESCH, Joris Robert1 ; ORTIBUS, Els4 ; DEVRIENDT, Koenraad1
[1] Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
[2] Division of Neurology Department of Internal Medicine, fichi Medical University, Tochigi, Japan
[3] Department of Electrical Engineering (ESAT), Catholic University of Leuven, Leuven, Belgium
[4] Department ofPaediatric Neurology, Catholic University of Leuven, Leuven, Belgium
Source

European journal of human genetics. 2008, Vol 16, Num 9, pp 1050-1054, 5 p ; ref : 21 ref

ISSN
1018-4813
Scientific domain
Genetics
Publisher
Nature Publishing, Avenel, NJ
Publication country
United States
Document type
Article
Language
English
Author keyword
ARSACS array CGH chromosomal deletion
Keyword (fr)
Ataxie Délétion Gène Génomique Génétique Pathologie du système nerveux central Trouble neurologique Aberration chromosomique Pathologie de l'encéphale Pathologie du système nerveux
Keyword (en)
Ataxia Deletion Gene Genomics Genetics Central nervous system disease Neurological disorder Chromosomal aberration Cerebral disorder Nervous system diseases
Keyword (es)
Ataxia Deleción Gen Genómica Genética Sistema nervosio central patología Trastorno neurológico Aberración cromosómica Encéfalo patología Sistema nervioso 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 / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A01 Nervous system as a whole

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 Neurology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
20561713

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

Access to the document

Searching the Web