New Huntington disease mutation arising from a paternal CAG34 allele showing somatic length variation in serially passaged lymphoblasts
- Author
- CANNELLA, Milena1 ; MAGLIONE, Vittorio1 ; MARTINO, Tiziana1 ; SIMONELLI, Maria1 ; RAGONA, Giuseppe2 ; SQUITIERI, Ferdinando1
[1] Neurogenetics Unit IRCCS Neuromed, Pozzilli (IS), Italy
[2] Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy - Source
American journal of medical genetics. = Neuropsychiatric genetics. 2005, Vol 133B, Num 1, pp 127-130, 4 p ; ref : 22 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- cis-acting factors intermediate alleles new mutation somatic CAG repeat variation
- Keyword (fr)
- Allèle Cellule somatique Chorée Huntington Génétique Homme Longueur Lymphoblaste Mutation Origine paternelle Variation Encéphale pathologie Extrapyramidal syndrome Maladie dégénérative Maladie héréditaire Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Allele Somatic cell Huntington disease Genetics Human Length Lymphoblast Mutation Paternal origin Variations Cerebral disorder Extrapyramidal syndrome Degenerative disease Genetic disease Central nervous system disease Nervous system diseases
- Keyword (es)
- Alelo Célula somática Corea Huntington Genética Hombre Longitud Linfoblasto Mutación Origen paterno Variación Encéfalo patología Extrapiramidal síndrome Enfermedad degenerativa Enfermedad hereditaria Sistema nervosio central patología Sistema nervioso patología
- Classification
- 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 / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Medical genetics Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16459906
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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