A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.-论文-万方医学网

作者： Maria,Muglia ^[1] ; Angela,Magariello ; Giuseppe,Nicoletti ; Alessandra,Patitucci ; Anna Lia,Gabriele ; Francesca Luisa,Conforti ; Rosalucia,Mazzei ; Manuela,Caracciolo ; Giorgio,Casari ; Bonaventura,Ardito ; Marcello,Lastilla ; Antonio,Gambardella ; Aldo,Quattrone

作者单位： Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy. ^[1]

主题词成年人(Adult);发病年龄(Age of Onset);儿童(Child);儿童, 学龄前(Child, Preschool);染色体图(Chromosome Mapping);染色体, 人, 14对(Chromosomes, Human, Pair 14);女(雌)性(Female);GTP磷酸水解酶类(GTP Phosphohydrolases);GTP结合蛋白质类(GTP-Binding Proteins);基因, 显性(Genes, Dominant);基因连锁(Genetic Linkage);单倍型(Haplotypes);人类(Humans);意大利(Italy);优势对数记分法(Lod Score);男(雄)性(Male);膜蛋白质类(Membrane Proteins);中年人(Middle Aged);系谱(Pedigree);痉挛性截瘫, 遗传性(Spastic Paraplegia, Hereditary)

DOI 10.1007/s00415-002-0856-4

PMID 12382159

发布时间 2011-11-17

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A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.

Journal of neurology

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Journal of neurology

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A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.

Journal of neurology

相似文献

Journal of neurology

相关期刊

检索历史清除