AMYLOIDOGENIC TRANSTHYRETIN Val30Met HOMOZYGOTE SHOWING UNUSUALLY EARLY-ONSET FAMILIAL AMYLOID POLYNEUROPATHY
- Author
- TOJO, Kana1 ; SEKIJIMA, Yoshiki1 2 ; MACHIDA, Kazuko1 ; TSUCHIYA, Ayako1 ; YAZAKI, Masahide1 ; IKEDA, Shu-Ichi1
[1] Department of Neurology and Rheumatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan
[2] Division of Clinical and Molecular Genetics, Shinshu University School of Medicine, Matsumoto, Japan - Source
Muscle & nerve. 2008, Vol 37, Num 6, pp 796-803, 8 p ; ref : 45 ref
- CODEN
- MUNEDE
- ISSN
- 0148-639X
- Scientific domain
- Neurology; Physiology, morphology
- Publisher
- Wiley, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- amyloidosis familial amyloid polyneuropathy (FAP) homozygosity protein misfolding transthyretin (TTR)
- Keyword (fr)
- Amyloïdose Homme Instabilité Mutation Polyneuropathie périphérique Protéine Enzymopathie Maladie métabolique Pathologie du système nerveux périphérique Pathologie du système nerveux
- Keyword (en)
- Amyloidosis Human Instability Mutation Polyneuropathy Protein Enzymopathy Metabolic diseases Peripheral nerve disease Nervous system diseases
- Keyword (es)
- Amiloidosis Hombre Inestabilidad Mutación Polineuropatía periférica Proteína Enzimopatía Metabolismo patología Nervio periférico patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A08 Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22E Other metabolic disorders / 002B22E04 Amyloidosis
- Discipline
- Metabolic diseases Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20404856
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
10.1002/mus.21028 
https://dx.doi.org/10.1002/mus.21028
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