Screening for mutation site on the type I neurofibromatosis gene in a family

Ming Lv; Wenhua Zhao; Lin Yan; Liang Chen; Kai Cui; Jie Gao; Fachang Yu; Sheng Li

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Screening for mutation site on the type I neurofibromatosis gene in a family

机译：筛选一个家庭中I型神经纤维瘤病基因的突变位点

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Purpose The purpose of the study was to determine the sites and types of mutations associated with type I neurofibromatosis (NF1) in the NF1 gene in a family with NF1 patients.

机译：目的本研究的目的是确定一个患有NF1的患者家庭中NF1基因中与I型神经纤维瘤病（NF1）相关的突变的位点和类型。

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《Child's Nervous System》 |2012年第5期|p.721-727|共7页
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Ming Lv; Wenhua Zhao; Lin Yan; Liang Chen; Kai Cui; Jie Gao; Fachang Yu; Sheng Li;
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专利

1. Screening for mutation site on the type I neurofibromatosis gene in a family [J] . LvM., ZhaoW., YanL., Child's nervous system: ChNS : official journal of the International Society for Pediatric Neurosurgery . 2012,第5期

机译：筛选一个家庭中I型神经纤维瘤病基因的突变位点
2. Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation [J] . NicitaF., TorrenteI., SpaliceA., Journal of clinical neuroscience: official journal of the Neurosurgical Society of Australasia . 2014,第2期

机译：脊髓神经纤维瘤病家族中的经典1型神经纤维瘤病和新的NF1基因突变。
3. Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation [J] . NicitaF., TorrenteI., SpaliceA., Journal of clinical neuroscience: official journal of the Neurosurgical Society of Australasia . 2014,第2期

机译：典型神经纤维瘤病类型1和新型NF1基因突变的家庭中的脊髓神经纤维瘤病
4. Mutation typing in patients with medium chainAcylCoA dehydrogenase deficiency (MCADD) andPCR based mutation screening in SIDS victims [C] . D. Krause, K. Jachau, K. Mohnike, International Society for Forensic Genetics . 2006

机译：中链酰基乙酰脱氢酶缺乏症（MCADD）突变筛查患者的突变敏感筛选
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. Screening for mutation site on the type I neurofibromatosis gene in a family [O] . Ming Lv, Wenhua Zhao, Lin Yan, -1

机译：筛选一个家庭中I型神经纤维瘤病基因的突变位点
7. Screening for mutation site on the type I neurofibromatosis gene in a family [O] . 2012

机译：筛选一个家庭中I型神经纤维瘤病基因的突变位点
8. Gene Structure and Somatic Mutation Analysis of Neurofibromatosis Type 1 [R] . Viskochil, D. H. 1996

机译：神经纤维瘤病1型的基因结构和体细胞突变分析

Screening for mutation site on the type I neurofibromatosis gene in a family

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