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Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma.

作者信息

Amicucci P, Gennarelli M, Novelli G, Dallapiccola B

机构信息

Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Via Di Tor Vergata 135, 00133 Rome, Italy.

出版信息

Clin Chem. 2000 Feb;46(2):301-2.

PMID:10657396
Abstract
摘要

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Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma.利用从母体血浆中获取的胎儿DNA对强直性肌营养不良进行产前诊断。
Clin Chem. 2000 Feb;46(2):301-2.
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First-trimester prediction in fetus at risk for myotonic dystrophy.
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Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy.三核苷酸重复序列收缩:强直性肌营养不良产前诊断中的一个陷阱。
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Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring.父母三核苷酸GCT重复序列长度与子代强直性肌营养不良严重程度之间的关系。
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6
[Two cases of myotonic dystrophy diagnosed by DNA analysis].
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Molecular diagnosis of myotonic dystrophy.强直性肌营养不良症的分子诊断
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8
[Prenatal diagnosis of myotonic dystrophy: the first experience in Spain].
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Prenatal diagnosis of congenital myotonic dystrophy and counseling of the pregnant mother: case report and literature review.先天性肌强直性营养不良的产前诊断及对孕妇的咨询:病例报告与文献综述
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Computations for prenatal prediction of myotonic dystrophy.强直性肌营养不良产前预测的计算
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