Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three-multiplex PCR.
作者信息
Covone A E, Caroli F, Romeo G
出版信息
Am J Hum Genet. 1992 Sep;51(3):675-7.
Abstract
摘要
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A screening for dystrophin gene deletions in Japanese patients with Duchenne/Becker muscular dystrophy by the multiplex polymerase chain reaction.通过多重聚合酶链反应对日本杜兴氏/贝克氏肌肉营养不良症患者进行肌营养不良蛋白基因缺失筛查。
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[Screening for deletion in patients with Duchenne's myodystrophy by multiplex amplification].
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Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.法国南部患有杜氏/贝克型肌营养不良症家族中的分子缺失模式。
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Amplification of ten deletion-rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy.
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引用本文的文献
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The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine.通过多重PCR对印度尼西亚杜氏肌营养不良症/贝克型肌营养不良症患者的DMD基因缺失进行分析：个性化医疗时代。
BMC Res Notes. 2019 Oct 28;12(1):704. doi: 10.1186/s13104-019-4730-1.
本文引用的文献
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Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.通过聚合酶链反应检测98%的杜氏肌营养不良症/贝克型肌营养不良症基因缺失。
Hum Genet. 1990 Nov;86(1):45-8. doi: 10.1007/BF00205170.
3
4
Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene.杜氏肌营养不良症/贝克型肌营养不良症患者中，肌营养不良蛋白基因缺失的基因型-表型相关性及生殖腺嵌合现象
Hum Genet. 1991 Jul;87(3):353-60. doi: 10.1007/BF00200919.
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