Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort-Reference-Cited by-同舟云学术

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

Published:2009-12 Issue:12 Volume:30 Page:1657-1666
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Flanigan Kevin M.,Dunn Diane M.,von Niederhausern Andrew,Soltanzadeh Payam,Gappmaier Eduard,Howard Michael T.,Sampson Jacinda B.,Mendell Jerry R.,Wall Cheryl,King Wendy M.,Pestronk Alan,Florence Julaine M.,Connolly Anne M.,Mathews Katherine D.,Stephan Carrie M.,Laubenthal Karla S.,Wong Brenda L.,Morehart Paula J.,Meyer Amy,Finkel Richard S.,Bonnemann Carsten G.,Medne Livija,Day John W.,Dalton Joline C.,Margolis Marcia K.,Hinton Veronica J.,Weiss Robert B.,

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21114/fullpdf

Reference45 articles.

1. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations;Aartsma-Rus;Hum Mutat,2009

2. Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients;Aartsma-Rus;Hum Mol Genet,2003

3. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule;Aartsma-Rus;Muscle Nerve,2006

4. Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene;Abbs;J Med Genet,1992

5. Disease-causing mutations in the human genome;Antonarakis;Eur J Pediatr,2000

Cited by 271 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. High mobility group box 1 (HMGB1) is a potential disease biomarker in cell and mouse models of Duchenne muscular dystrophy;Biology Open;2024-09-05

2. An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy;International Journal of Molecular Sciences;2024-07-16

3. A Novel CRISPR-Cas9 Strategy to Target DYSTROPHIN Mutations Downstream of Exon 44 in Patient-Specific DMD iPSCs;Cells;2024-06-04

4. The Role of MicroRNA in the Pathogenesis of Duchenne Muscular Dystrophy;International Journal of Molecular Sciences;2024-06-01

5. Discovery of Quinazoline and Quinoline-Based Small Molecules as Utrophin Upregulators via AhR Antagonism for the Treatment of Duchenne Muscular Dystrophy;Journal of Medicinal Chemistry;2024-05-21