出处
《中风与神经疾病杂志》
CAS
CSCD
北大核心
2003年第6期569-571,共3页
Journal of Apoplexy and Nervous Diseases
基金
教育部高校青年教师奖教人司2 0 0 1 - 1 82
二级参考文献2
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1A. Haupt,Ludger Sch?ls,Horst Przuntek,J?rg T. Epplen. Polymorphisms in the PMP-22 gene region (17p11.2–12) are crucial for simplified diagnosis of duplications/deletions[J] 1997,Human Genetics(5):688~691
-
2Benjamin B. Roa,Carlos A. Garcia,Uelli Suter,Deanna A. Kulpa,Carol A. Wise,Jane Müller,Andrew A. Welcher,G. Jackson Snipes,Eric M. Shooter,Pragna I. Patel,James R. Lupski. Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in thePMP22 gene[J] 1994,Pediatric Nephrology(3):284
共引文献2
-
1耿鑫,吴娜,赵心.国内常见遗传病及其基因检测概况[J].现代医院,2007,7(7):18-20. 被引量:2
-
2吴志国,张进,肖波,肖剑锋,李静.腓骨肌萎缩症1A型基因诊断的特异性分析[J].中国临床康复,2004,8(13):2470-2471.
同被引文献24
-
1邱文娟,张雅芬,叶军,韩连书,顾学范.127例PKU患者PAH基因第12外显子点突变及其频率研究[J].中华医学遗传学杂志,2004,21(3):261-263. 被引量:5
-
2毛跃华,孙琼,李峥,盛敏,黄淑帧,曾溢滔.应用多重等位基因特异PCR技术进行β地中海贫血的基因诊断[J].中华医学遗传学杂志,1995,12(4):209-211. 被引量:15
-
3李洵桦,刘焯霖,梁秀龄.直接定量PCR对缺失型DMD基因携带者的诊断[J].中华医学遗传学杂志,1997,14(1):49-51. 被引量:6
-
4ROUSSEAU F,BONAVENTURE J,LEGEAI-MALLET L,et al.Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia[J].Horm Res,1996,45(1-2):108-110.
-
5FRANCOMANO C A,ORTIZ DE LUNA R I,HEFFERON T,et al.Localization of the achondroplasia gene to the distal 2.5Mb of human chromosome 4p[J].Hum Mol Genet,1994,3(5):787-792.
-
6RAEYMAEKERS P,TIMMERMAN V,DE JONGHE,et al.Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy(HMSNI)[J].Am J Hum Genet,1989,45(6):953-958.
-
7WOO S L C,LIDSKY A S,GUTTLER F D,et al.Cloned human phenylalanine hydroxylase gene and allows prenatal diagnosis and carried detection of classical phenylketonuria[J].Nature,1983,306:151-155.
-
8GOLTSOV A A,EISENSMITH R C,NAUGHTON E R,et al.A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria[J].Hum Mol Genet,1993,2(5):577-581.
-
9HIGGS D R,VICKERS M A,WILKIE AO,et al.A review of the molecular genetics of the human alpha-globin gene cluster[J].Blood,1989,73(5):1081-1104.
-
10CHEHAB F F,DOHERTY M,CAI S P,et al.Detection of sickle cell anaemia and thalassaemias[J].Nature,1987,329(6137):293-294.
-
1杨恩和,花放.腓骨肌萎缩症一家系调查[J].中国优生与遗传杂志,1994,2(6):116-117.
-
2刘菁菁,吕鹤,王朝霞,刘靖,左越焕,贺茂林,袁云.常见腓骨肌萎缩症亚型的临床和神经病理改变差异分析[J].中华神经科杂志,2016,49(10):758-763. 被引量:4
-
3徐流波,马宁,王勋,杨忠祥.胆囊胆固醇结石的成因及发病机制研究进展[J].山东医药,2010,50(10):114-115. 被引量:12
-
4唐伟,白鹰,王威.腓骨肌萎缩症并发下肢骨折1例报道[J].中国医药指南,2012,10(8):229-230.
-
5郑桂芝,赵喜才.腓骨肌萎缩症一家系[J].医学信息,2009,22(5):741-742.
-
6丛志强.腓骨肌萎缩症[J].家庭医学(上半月),1999,0(1):62-63.
-
7王鹏,刘晓光,滕泽.脊柱后纵韧带骨化的基因学研究进展[J].中国微创外科杂志,2016,16(9):848-851.
-
8赵斌,赵轶波.基因学和遗传学在特发性脊柱侧凸病因学中的研究进展[J].中国药物与临床,2009,9(5):412-413.
-
9张鸿雁.腓骨肌萎缩症患者神经电生理检测特征性分析[J].现代电生理学杂志,2014,21(3):138-140. 被引量:1
-
10Farzad Omidi Kashani Ibrahim Ghayem Hasankhani Mahdi Banaii.Surgical Treatment of Scoliosis in Patients with Charcot-Marie-Tooth Disease[J].海南医学院学报,2009,15(3):227-230.