杜氏/贝克氏肌肉营养不良症诊断的改进 - Suppr

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超能文献

Improved diagnosis of Duchenne/Becker muscular dystrophy.

作者信息

Beggs A H, Kunkel L M

机构信息

Division of Genetics, Children's Hospital, Boston, Massachusetts 02115.

出版信息

J Clin Invest. 1990 Mar;85(3):613-9. doi: 10.1172/JCI114482.

DOI:10.1172/JCI114482

PMID:1968908

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC296473/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82b/296473/be918b06e671/jcinvest00069-0008-a.jpg

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本文引用的文献

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

Hum Genet. 1984;66(1):17-40. doi: 10.1007/BF00275183.

Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history.

Muscle Nerve. 1983 Feb;6(2):91-103. doi: 10.1002/mus.880060204.

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome.对人类X染色体短臂上杜兴氏肌营养不良症基因座两侧的两个克隆DNA序列进行连锁分析。

Nucleic Acids Res. 1983 Apr 25;11(8):2303-12. doi: 10.1093/nar/11.8.2303.

Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences.通过与克隆的DNA序列连锁分析，将贝克肌营养不良基因定位在X染色体短臂上。

Hum Genet. 1984;67(1):6-17. doi: 10.1007/BF00270551.

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.一名男性患者Xp21染色体微小缺失，伴有杜氏肌营养不良症、慢性肉芽肿病、色素性视网膜炎和麦克劳德综合征的表现。

Am J Hum Genet. 1985 Mar;37(2):250-67.

Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy.

Clin Genet. 1986 Feb;29(2):108-15. doi: 10.1111/j.1399-0004.1986.tb01232.x.

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.杜兴氏肌营养不良症基因部分候选cDNA的分离

Nature. 1986;323(6089):646-50. doi: 10.1038/323646a0.

Protein sequence of DMD gene is related to actin-binding domain of alpha-actinin.DMD基因的蛋白质序列与α-辅肌动蛋白的肌动蛋白结合结构域相关。

Cell. 1987 Oct 9;51(1):1. doi: 10.1016/0092-8674(87)90002-x.

A cDNA clone from the Duchenne/Becker muscular dystrophy gene.一个来自杜兴氏/贝克氏肌肉萎缩症基因的cDNA克隆。

Nature. 1987;328(6129):434-7. doi: 10.1038/328434a0.

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.

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