日本杜氏和贝克肌营养不良症的分子研究。 - Suppr

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超能文献

Molecular study of Duchenne and Becker muscular dystrophies in Japanese.

作者信息

Tsukamoto H, Inui K, Fukushima H, Nishigaki T, Taniike M, Tanaka J, Okada S

机构信息

Department of Pediatrics, Osaka University Medical School, Japan.

出版信息

J Inherit Metab Dis. 1991;14(5):819-24. doi: 10.1007/BF01799956.

DOI:10.1007/BF01799956

PMID:1779629

Abstract

摘要

相似文献

Molecular study of Duchenne and Becker muscular dystrophies in Japanese.日本杜氏和贝克肌营养不良症的分子研究。

J Inherit Metab Dis. 1991;14(5):819-24. doi: 10.1007/BF01799956.

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。

Hum Genet. 1991 Dec;88(2):179-84. doi: 10.1007/BF00206068.

Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec.肌营养不良蛋白基因缺失：魁北克杜兴氏和贝克氏肌肉营养不良症患者分析

Hum Genet. 1992 Jun;89(4):419-24. doi: 10.1007/BF00194314.

Dystrophin in frameshift deletion patients with Becker muscular dystrophy.贝氏肌营养不良症移码缺失患者中的肌营养不良蛋白

Am J Hum Genet. 1992 Sep;51(3):562-70.

Topographic pattern of the rearrangement of the dystrophin gene in Japanese Duchenne muscular dystrophy.

Hum Genet. 1993 Dec;92(6):533-6. doi: 10.1007/BF00420934.

Screening of gene deletions by polymerase chain reaction in Japanese patients with Duchenne muscular dystrophy.日本杜氏肌营养不良症患者中通过聚合酶链反应进行基因缺失筛查

J Neurol. 1991 Feb;238(1):6-8. doi: 10.1007/BF00319701.

Deletion screening of the Duchenne/Becker muscular dystrophy gene in Croatian population.

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Southern blot and PCR analyses of dystrophin gene deletions in Japanese patients with Duchenne muscular dystrophy.日本杜兴氏肌营养不良症患者中肌营养不良蛋白基因缺失的Southern印迹和PCR分析。

Kobe J Med Sci. 1991 Feb;37(1):21-33.

Defective dystrophin in Duchenne and Becker dystrophy myotubes in cell culture.细胞培养中杜氏和贝克型肌营养不良症肌管中的抗肌萎缩蛋白缺陷

Neurology. 1990 Dec;40(12):1854-8. doi: 10.1212/wnl.40.12.1854.

Deletion analysis of Duchenne muscular dystrophy.杜兴氏肌肉营养不良症的缺失分析

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引用本文的文献

Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges.杜兴氏肌营养不良症热点区域的多重外显子跳跃：前景与挑战

J Pers Med. 2018 Dec 7;8(4):41. doi: 10.3390/jpm8040041.

Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy.三种用于肢带型肌营养不良症、面肩肱型肌营养不良症和贝克型肌营养不良症的新型血清生物标志物，即miR-1、miR-133a和miR-206 。

Environ Health Prev Med. 2014 Nov;19(6):452-8. doi: 10.1007/s12199-014-0405-7. Epub 2014 Aug 24.

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.使用 eDystrophin 在线数据库中包含的工具评估 DMD 基因突变的结构和功能影响。

Orphanet J Rare Dis. 2012 Jul 9;7:45. doi: 10.1186/1750-1172-7-45.

本文引用的文献

No sex difference in mutations rates of Duchenne muscular dystrophy.杜氏肌营养不良症的突变率不存在性别差异。

J Med Genet. 1980 Apr;17(2):106-11. doi: 10.1136/jmg.17.2.106.

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.

Dystrophin: the protein product of the Duchenne muscular dystrophy locus.肌营养不良蛋白：杜氏肌营养不良基因座的蛋白质产物。

Cell. 1987 Dec 24;51(6):919-28. doi: 10.1016/0092-8674(87)90579-4.

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.肌营养不良蛋白的完整序列预示着一种杆状细胞骨架蛋白。

Cell. 1988 Apr 22;53(2):219-28. doi: 10.1016/0092-8674(88)90383-2.

Molecular-genetic study of Duchenne and Becker muscular dystrophies: deletion analyses of 45 Japanese patients and segregation analyses in their families with RFLPs based on the data from normal Japanese females.杜兴氏和贝克氏肌营养不良症的分子遗传学研究：对45名日本患者进行缺失分析，并根据正常日本女性的数据，对其家族进行基于限制性片段长度多态性的分离分析。

Am J Med Genet. 1989 Dec;34(4):555-61. doi: 10.1002/ajmg.1320340421.

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.

Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophy.日本杜兴氏和贝克氏肌肉营养不良患者的基因缺失

Jinrui Idengaku Zasshi. 1990 Jun;35(2):159-68. doi: 10.1007/BF01876461.

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