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A novel single-base mutation mimicking exon deletion of MLPA in symptomatic Duchenne muscular dystrophy carrier
A novel single-base mutation mimicking exon deletion of MLPA in symptomatic Duchenne muscular dystrophy carrier
2020
Min-Sub Cho
Jong-Mok Lee
Keywords:
Pathology
Exon
Multiplex ligation-dependent probe amplification
Mutation
Duchenne muscular dystrophy
Diabetes mellitus
Medicine
Genetics
Exome sequencing
X-inactivation
INDEL Mutation
Muscle weakness
Correction
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