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Article
A Novel Splicing Mutation c.335–1 G > A in the Cardiac Transcription Factor NKX2-5 Leads to Familial Atrial Septal Defect Through miR-19 and PYK2
Mutations of NKX2-5 largely contribute to congenital heart diseases (CHDs), especially atrial septal defect (ASD). We identified a novel heterozygous splicing mutation c.335-1G > A in NKX2-5 gene in an ASD family...
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Article
First report of a novel LMNA mutation in a Chinese family with limb–girdle muscular dystrophy