Molecular Diagnosis of Duchenne Muscular Dystrophy
Author:
Affiliation:
1. Department of Human Genetics, Emory University School of Medicine Atlanta Georgia
Publisher
Wiley
Subject
General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/0471142905.hg0925s83
Reference17 articles.
1. Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene
2. Measurement of locus copy number by hybridisation with amplifiable probes
3. Detection limit of intragenic deletions with targeted array comparative genomic hybridization
4. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
5. Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations
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1. Genetic counseling for the dystrophinopathies—Practice resource of the National Society of Genetic Counselors;Journal of Genetic Counseling;2024-04-29
2. Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature;Heliyon;2024-04
3. Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy;EMBO Molecular Medicine;2024-03-04
4. Exome and genome sequencing for diagnosing patients with suspected rare genetic disease;Journal of Genetic Medicine;2023-12-31
5. Clinical and genetic characteristics and an algorithm for the differential diagnosis of progressive muscular dystrophies that manifest after a period of normal motor development;Neuromuscular Diseases;2023-03-27
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