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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.

DOI:10.1093/nar/19.9.2501
PMID:2041789
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC329469/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2cc8/329469/5fd0db70c05a/nar00089-0248-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2cc8/329469/5fd0db70c05a/nar00089-0248-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2cc8/329469/5fd0db70c05a/nar00089-0248-a.jpg

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Direct analysis of amniotic fluid cells by multiplex PCR provides rapid prenatal diagnosis for Duchenne muscular dystrophy.通过多重聚合酶链反应直接分析羊水细胞可为杜氏肌营养不良症提供快速的产前诊断。
Nucleic Acids Res. 1991 May 11;19(9):2501. doi: 10.1093/nar/19.9.2501.
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Prenatal diagnosis of Duchenne muscular dystrophy by radioimmunoassay of myoglobin in amniotic fluid.通过羊水肌红蛋白放射免疫测定法对杜氏肌营养不良症进行产前诊断。
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[The polymerase chain reaction PCR and its use in genetic diagnosis].
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引用本文的文献

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An in vitro selection scheme for oligonucleotide probes to discriminate between closely related DNA sequences.
Nucleic Acids Res. 2007;35(9):e66. doi: 10.1093/nar/gkm156. Epub 2007 Apr 10.

本文引用的文献

1
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.杜兴氏肌营养不良症(DMD)cDNA的完整克隆以及正常个体和患病个体中DMD基因的初步基因组结构
Cell. 1987 Jul 31;50(3):509-17. doi: 10.1016/0092-8674(87)90504-6.
2
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.杜兴氏肌营养不良症(DMD)基因的图谱:对194例病例的脉冲场凝胶电泳(FIGE)和cDNA分析揭示了115处缺失和13处重复。
Am J Hum Genet. 1989 Dec;45(6):835-47.
3
Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.
杜兴肌营养不良症(DMD)基因富含缺失区域内存在缺失的患者的分子与表型分析。
Am J Hum Genet. 1989 Oct;45(4):507-20.
4
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.