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Substitution and deletion-insertion (Indels) mutations in DMD patients.

NIAID Data Ecosystem2026-03-10 收录

数据链接：

https://figshare.com/articles/dataset/Substitution_and_deletion-insertion_Indels_mutations_in_DMD_patients_/6393056 数据链接链接失效反馈

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资源简介：

Substitution and deletion-insertion (Indels) mutations in DMD patients.

应用场景：

创建时间：

2018-05-30

DMD基因突变

短读长测序分析

Purpose: Exon deletions make up to 80% of mutations in the DMD gene, which cause Duchenne and Becker muscular dystrophy. Exon 45-55 regions were reported as deletion hotspots and intron 44 harbored mo

NIAID Data Ecosystem150

Table_3_Sequence and Structure Characteristics of 22 Deletion Breakpoints in Intron 44 of the DMD Gene Based on Long-Read Sequencing.DOCX

DMD基因突变

短读长测序分析

NIAID Data Ecosystem40

Non-contiguous mutations in the DMD gene.

DMD基因突变

分子诊断

Non-contiguous mutations in the DMD gene.

Figshare2020-06-19 更新20

Table_1_Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.docx

DMD基因突变

遗传性肌营养不良症基因检测

Background: Muscular dystrophy (MD) includes multiple types, of which dystrophinopathies caused by dystrophin (DMD) mutations are the most common types in children. An accurate identification of the c

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DATASET - MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB

DMD基因突变

Duchenne肌营养不良症

This record contains figures and tables related to the manuscript: "MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB". Abstract Backgr

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Substitution and deletion-insertion (Indels) mutations in DMD patients.

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