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经基因确诊的一例Duchenne型肌营养不良

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出处 《华西医学》 CAS 2009年第5期1099-1099,共1页 West China Medical Journal
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参考文献3

  • 1王化冰,王维治.进行性肌营养不良[M].见:王维治主编.神经病学.第1版.北京:人民卫生出版社,2006:1213-1227.
  • 2Hoogerwaard E M, Bakler E, Ippel P F, et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study[J]. Lancet 1999,353:2116-2119.
  • 3曹俊娟,柳青.基因缺失与DMD的关系研究及携带者筛查[J].重庆医科大学学报,2008,33(8):942-946. 被引量:2

二级参考文献13

  • 1Ivan Fai-man Lo,Kent Keung-san Lai,Tony Ming-for Tong,Stephen Tak-sum Lam.A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy[J].Chinese Medical Journal,2006(13):1079-1087. 被引量:21
  • 2Basak J,Dasgupta UB,Banerjee TK,et al. Analysis of dystrophin gene deletions by multiplex PCR in eastern India[J]. Neurol India, 2006 ; 54( 3 ) : 310-311.
  • 3Aziza S,Fatiha EK,Abdelaziz S,et al. Analysis of dystrophin gene deletions by multiplex PCR in moroccan patients[J]. JBB, 2002;2(3): 158-160.
  • 4Mallikarjuna RG,Hussain T,Geetha DN,et al. Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients[J]. Indian J Med Sci,2003;57( 1 ): 1-6.
  • 5Un KK,Jae JC,Sook HL,et al.Molecular diagnosis of Duehenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis[J]. Molecules and Cells, 2002 ; 13 ( 3 ) : 385- 388.
  • 6Chamberlain JS,Gibbs RA,Ranier JE,et al. Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In PCR protocols a guide to methods and applications'Innis MA,Gelfand DH,Sninsky JJ,eds[M]. New York:Academic press,1990.272-281.
  • 7Clemens PR,Fenwick RG,Chamherlein JS,et al. Carriers detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy famillies using dinucleotide repeat polymorphisms[J]. Am J Hum Genet, 1991 ;49:951-960.
  • 8Mukherjee M,Chaturvedi LS,Srivastava S,et al. De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases[J]. Exp Mol Med,2003;35(2):113-117.
  • 9Ferreiro V,Szijan I,Giliberto F,et al. Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide(CA) n repeat loci within the dystrophin gene[J]. Mol Diagn,2004;8(2):115-121.
  • 10Bakker E,VeenemaH,Den DJ,et al. Germinal mosaicism increase the recurrence risk for "new"Duchenne muscular dystropy mutations[J]. Med Genet,1989;26(8):533.

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