Failure of fetal creatine phosphokinase as a diagnostic indicator of Duchenne muscular dystrophy.

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作者信息

Golbus M S, Stephens J D, Mahoney M J, Hobbins J C, Haseltine F P, Caskey C T, Banker B Q

出版信息

N Engl J Med. 1979 Apr 12;300(15):860-1. doi: 10.1056/NEJM197904123001515.

DOI:10.1056/NEJM197904123001515

PMID:423925

Abstract

摘要

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Failure of fetal creatine phosphokinase as a diagnostic indicator of Duchenne muscular dystrophy.

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Uncovering the Embryonic Origins of Duchenne Muscular Dystrophy.揭示杜氏肌营养不良症的胚胎起源。

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Value of fetoscopy in prenatal diagnosis.胎儿镜检查在产前诊断中的价值。

J R Soc Med. 1980 Jan;73(1):29-33.

Detection of carriers for Duchenne muscular dystrophy. Quality control of creatine kinase assay.杜氏肌营养不良症携带者的检测。肌酸激酶检测的质量控制。

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Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.杜氏肌营养不良症：发病机制及基因预防

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Fetal tissue sampling. The San Francisco experience with 190 pregnancies.胎儿组织取样。旧金山190例妊娠的经验。

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Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis.杜氏肌营养不良症的产前诊断：前瞻性连锁分析与回顾性肌营养不良蛋白cDNA分析

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