换一批
换一批Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.
第一作者：
Salma M,Wakil
第一单位：
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. Electronic address: smajid@kfshrc.edu.sa.
作者：
关键词
ALS2Alsin-2 geneAmyotrophic lateral sclerosisDH/PHDb1 and pleckstrin homologyGDPGEFGTPGTPaseHereditary spastic paraplegiaHomozygosityIAHSPJPLSLMNMORNMotor neuronMutationRCC1ROHRas homologous memberRhoUMNVPS9guanine exchange factorguanosine diphosphateguanosine triphosphatase NMD: nonsense-mediated mRNA decayguanosinetriphosphataseinfantile-onset ascending hereditary spastic paraplegiajuvenile amyotrophic lateral sclerosis 2juvenile primary lateral sclerosislower motor neuronsmembrane occupation and recognition nexusregions of homozygosityregulator of chromatin condensation 1upper motor neuronsvacuolar protein sorting 9
主题词
发病年龄(Age of Onset);儿童(Child);儿童, 学龄前(Child, Preschool);近亲(Consanguinity);女(雌)性(Female);鸟嘌呤核苷酸交换因子类(Guanine Nucleotide Exchange Factors);人类(Humans);男(雄)性(Male);突变, 误义(Mutation, Missense);系谱(Pedigree);多态性, 单核苷酸(Polymorphism, Single Nucleotide);蛋白质结构, 三级(Protein Structure, Tertiary);同胞(Siblings);痉挛性截瘫, 遗传性(Spastic Paraplegia, Hereditary)
DOI
10.1016/j.gene.2013.11.043
PMID
24315819
发布时间
2014-01-13
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Gene
217-20页
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