A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family
- Author
- XIN, B1 ; PUFIENBERGER, E2 ; NYE, L1 ; WIZNITZER, M3 ; WANG, H1 3 4
[1] DDC Clinic for Special Needs Children, Middlefield, OH, United States
[2] The Clinic for Special Children, Strasburg, PA, United States
[3] Rainbow Babies & Children's Hospital, Cleveland, OH, United States
[4] Cleveland Clinic Foundation, Cleveland, OH, United States - Source
Clinical genetics. 2008, Vol 74, Num 3, pp 274-278, 5 p ; ref : 28 ref
- Publisher
- Blackwell, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- Charcot GDAP1 gene Marie Old Order Amish Tooth disease genome-wide SNP mapping homozygous mutation
- Keyword (fr)
- Amyotrophie de Charcot-Marie-Tooth Association Caractère autosomique Caractère récessif Carte génétique Cartographie Dent Denture Etude familiale Gène Génome Génétique Homme Homozygotie Maladie héréditaire Milieu familial Mutation Polymorphisme mononucléotide Maladie dégénérative Pathologie de la moelle épinière Pathologie du système nerveux central Pathologie du système nerveux Pathologie neuromusculaire
- Keyword (en)
- Charcot-Marie-Tooth disease Association Autosomal character Recessive character Genetic mapping Cartography Tooth Teeth Family study Gene Genome Genetics Human Homozygosity Genetic disease Family environment Mutation Single nucleotide polymorphism Degenerative disease Spinal cord disease Central nervous system disease Nervous system diseases Neuromuscular diseases
- Keyword (es)
- Amiotrofía Charcot-Marie-Tooth Asociación Carácter autosómico Carácter recesivo Mapa genético Cartografía Diente Dentado Estudio familiar Gen Genoma Genética Hombre Homocigosis Enfermedad hereditaria Medio familiar Mutación Polimorfismo mononucleótido Enfermedad degenerativa Médula espinal patología Sistema nervosio central patología Sistema nervioso patología Neuromuscular 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 / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- 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
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20576513
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
10.1111/j.1399-0004.2008.01018.x 
https://dx.doi.org/10.1111/j.1399-0004.2008.01018.x
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