Direct analysis of amniotic fluid cells by multiplex PCR provides rapid prenatal diagnosis for Duchenne muscular dystrophy.
作者信息
Simard L R, Gingras F, Labuda D
机构信息
Service de Génétique Médicale, Hôpital Sainte-Justine, Université de Montréal, Québec, Canada.
出版信息
Nucleic Acids Res. 1991 May 11;19(9):2501. doi: 10.1093/nar/19.9.2501.
Abstract
摘要
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Direct analysis of amniotic fluid cells by multiplex PCR provides rapid prenatal diagnosis for Duchenne muscular dystrophy.
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Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.
Cell. 1987 Jul 31;50(3):509-17. doi: 10.1016/0092-8674(87)90504-6.
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Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.
Am J Hum Genet. 1989 Dec;45(6):835-47.
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Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.
Am J Hum Genet. 1989 Oct;45(4):507-20.
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The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
Am J Hum Genet. 1989 Oct;45(4):498-506.
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