Novel c. 775_781dup, p(Thr261fs) mutation in SPG 7 gene in a patient with hereditary spastic paraparesis

Bhattacharjee Shakya; Stinton Victoria; Cairns Diane; Murray Brian

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Novel c. 775_781dup, p(Thr261fs) mutation in SPG 7 gene in a patient with hereditary spastic paraparesis

机译：新型c。 775_781dup，p（thr261fs）在患有遗传性痉挛性痉挛性痉挛性痉挛性痉挛的患者中的p（thr261fs）突变

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来源
《Neurology India.》 |2017年第5期|共2页
作者
Bhattacharjee Shakya; Stinton Victoria; Cairns Diane; Murray Brian;
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作者单位

Plymouth Hosp NHS Trust Dept Neurol Plymouth Devon England;

Liverpool Women NHS Fdn Trust Liverpool Merseyside England;

Liverpool Women NHS Fdn Trust Liverpool Merseyside England;

Hermitage Med Clin Dept Neurol Dublin Ireland;

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原文格式 PDF
正文语种 eng
中图分类神经病学与精神病学;
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1. Novel c. 775_781dup, p(Thr261fs) mutation in SPG 7 gene in a patient with hereditary spastic paraparesis [J] . Bhattacharjee Shakya, Stinton Victoria, Cairns Diane, Neurology India. . 2017,第5期

机译：新型c。 775_781dup，p（thr261fs）在患有遗传性痉挛性痉挛性痉挛性痉挛性痉挛的患者中的p（thr261fs）突变
2. Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis [J] . Vinci Mirella, Fichera Marco, Musumeci Sebastiano Antonino, Journal of genetics . 2018,第5期

机译：具有遗传性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛性痉挛的新型C.C2254T（P.Q752 *）突变
3. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. [J] . Lindsey JC, Lusher ME, McDermott CJ, Journal of Medical Genetics . 2000,第10期

机译：遗传性痉挛性轻瘫的患者中spastin基因（SPG4）的突变分析。
4. MUTATION ANALYSIS OF EXON 7 OF THE MSH2 GENE IN PATIENTS WITH SUSPECTED HEREDITARY GASTROINTESTINAL CANCER IN CHINA [C] . Yimei Fan, Huan Zhang, Jin Dai, 第四届国际后基因组生命科学技术学术论坛 . 2006

机译：中国怀疑遗传性胃肠病患者MSH2基因第7外显子突变分析
5. Evaluation of the accuracy of quantitative models in predicting Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) mutations in a population-based sample of early-onset colorectal cancer patients [D] . Carpiniello, Lauren 2007

机译：在以人群为基础的早发性大肠癌患者样本中预测定量模型预测Lynch综合征（遗传性非息肉病性大肠直肠癌，DNA失配修复缺陷）的准确性
6. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis [O] . J Lindsey, M Lusher, C McDermott, 2000

机译：遗传性痉挛性轻瘫的患者spastin基因（SPG4）突变分析
7. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis [O] . Lindsey, J C, Lusher, M E, McDermott, C J, 2000

机译：遗传性痉挛性轻瘫的患者spastin基因（SPG4）突变分析

Novel c. 775_781dup, p(Thr261fs) mutation in SPG 7 gene in a patient with hereditary spastic paraparesis

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