Identification of a point mutation and germinal mosaicism in a duchenne muscular dystrophy family
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference31 articles.
1. A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.
2. Germline mosaicism and Duchenne muscular dystrophy mutations
3. Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.
4. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
5. A polymorphic CACA repeat in the 3′ untranslated region of dystrophin
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4. Splice Modification to Restore Functional Dystrophin Synthesis in Duchenne Muscular Dystrophy;Current Pharmaceutical Design;2010-03-01
5. Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene;Neuromuscular Disorders;2009-03
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