Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference13 articles.
1. 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
2. Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies;Stockley;Genet Test,2006
3. Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons;Zhang;J Hum Genet,2007
4. Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene;Beroud;Neuromuscul Disord,2004
5. Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping;Madden;Hum Mutat,2009
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1. 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
2. Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies;iScience;2023-12
3. In silicoanalysis of the altered protein structure and functions caused by existing synaptic gene mutations in Indian population having neurological disorders;2023-11-05
4. Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II;Human Genetics;2023-04-25
5. Captured long-read sequecing provides an efficient and accurate method for molecular diagnosis of Duchenne and Becker muscular dystrophies;2022-12-02
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