Art

J-GLOBAL ID：200902298751742577   Reference number：07A1121580

Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity

近位優勢および遺伝的多様性を示す常染色体優勢遺伝的運動と感覚神経障害(HMSN-P)に対する座の精密化

Author (10)： MAEDA Kouji (Tokushima Univ. Graduate School of Medicine, Tokushima, JPN) ,  KAJI Ryuji (Tokushima Univ. Graduate School of Medicine, Tokushima, JPN) ,  YASUNO Katsuhito (Tokai Univ. School of Medicine, Kanagawa, JPN) ,  YASUNO Katsuhito (JST-CREST, Saitama, JPN) ,  JAMBALDORJ Jamiyansuren (Tokushima Univ. Graduate School of Medicine, Tokushima, JPN) ,  NODERA Hiroyuki (Tokushima Univ. Graduate School of Medicine, Tokushima, JPN) ,  TAKASHIMA Hiroshi (Kagoshima Univ. Graduate School of Medicine, Kagoshima, JPN) ,  NAKAGAWA Masanori (Kyoto Prefectural Univ. Graduate School of Medicine, Kyoto, JPN) ,  MAKINO Satoshi (Tokushima Univ. Graduate School of Medicine, Tokushima, JPN) ,  TAMIYA Gen (Tokushima Univ. Graduate School of Medicine, Tokushima, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 52  Issue： 11  Page： 907-914  Publication year： 2007 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： Genotype ,...
Semi thesaurus term： variation(biology) ,...

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JST classification (2)： Structure and chemistry of genes  (EC02020U) ,  Nervous system diseases  (GN03000O)

Reference (9)：

• EVGRAFOV, OV. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet. 2004, 36, 6, 602-606
• FISHELSON, M. Exact genetic linkage computations for general pedigrees. Bioinformatics. 2002, 18, S189-S198
• GEMIGNANI, F. Charcot-Marie-Tooth disease (CMT) : distinctive phenotypic and genotypic features in CMT type 2. J Neurol Sci. 2001, 184, 1, 1-9
• KONG, A. A high-resolution recombination map of the human genome. Nat Genet. 2002, 31, 241-247
• QIAN, M. Minimum-recombinant haplotyping in pedigrees. Am J Hum Genet. 2002, 70, 1434-1445

Terms in the title (7)： 遺伝的多様性 ,  常染色体 ,  運動 ,  感覚 ,  神経障害 ,  HMSN ,  精密化