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机译:具有轻度共济失调和感觉神经病的常染色体隐性痉挛性截瘫(SPG30)映射到2q37.3号染色体
INSERM U679 (former U289) Federative Institute for Neuroscience Research (IFR70) Salpetriere Hospital Paris France;
Department of Genetics Cytogenetics and Embryology AP-HP Salpetriere Hospital Paris France;
Federation of Neurology AP-HP Salpetriere Hospital Paris France;
Pitie-Salpetriere Medical School Pierre and Marie Curie University (Paris VI) Paris France;
Clinician Gerardmer Evry France;
National Genotyping Centre (CNG) Evry France;
INSERM E223 Molecular Neurogenetics Laboratory Evry France;
Institute of Genetics and Molecular and Cellular Biology Illkirch CU de Strasbourg France;
Neurology B and Neurogenetics Unit Specialties Hospital Rabat Morocco;
SPG30; chromosome 2q37.3; autosomal recessive spastic paraplegia; linkage;
机译:具有轻度共济失调和感觉神经病的常染色体隐性痉挛性截瘫(SPG30)映射到2q37.3号染色体
机译:常染色体隐性破坏性感觉神经病伴痉挛性截瘫映射到染色体5p15.31-14.1。
机译:包含胞质伴侣蛋白的t-复合肽-1(Cct5)基因的ε亚基中的突变会导致常染色体隐性切割毁伤性感觉神经病并伴痉挛性截瘫。
机译:与精神发育迟缓和远端运动神经病相关的常染色体隐性痉挛性截瘫的新病源SPG14映射到染色体3q27-q28
机译:常染色体隐性残缺的感觉神经病变与痉挛性截瘫地图到染色体5p15.31-14.1