Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference28 articles.
1. Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.
2. Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene
3. A polymorphic CACA repeat in the 3′ untranslated region of dystrophin
4. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
5. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
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1. Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort;Neuromuscular Disorders;2018-12
2. MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene;Journal of the Neurological Sciences;2016-06
3. Effective Drug Delivery System for Duchenne Muscular Dystrophy Using Hybrid Liposomes Including Gentamicin along with Reduced Toxicity;Biological and Pharmaceutical Bulletin;2011
4. A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin;Journal of Biological Chemistry;2009-03
5. Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination;Prenatal Diagnosis;2005
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