Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations (Q57807179)

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English	Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations	article

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scholarly article

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Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations (English)

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hypertrophic cardiomyopathy

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corrigendum / erratum

Erratum: Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations

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Paal S Andersen

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Paal Skytt Andersen

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author name string

Rune Frank-Hansen

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Stephen P Page

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Petros Syrris

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William J McKenna

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Michael Christiansen

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publication date

12 March 2008

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European Journal of Human Genetics

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16

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9

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1062-1069

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.52

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In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit

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Selection of splice sites in pre-mRNAs with short internal exons

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Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families

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Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes

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A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance

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Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency

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Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

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Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

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Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein

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Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

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Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

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Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

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Genomic sequence, splicing, and gene annotation

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Architectural limits on split genes

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Computational discovery of internal micro-exons

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A 5' splice site-proximal enhancer binds SF1 and activates exon bridging of a microexon

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Requirements for mini-exon inclusion in potato invertase mRNAs provides evidence for exon-scanning interactions in plants

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Identification of two further splice variants of GABABR1 characterizes the conserved micro-exon 4 as a hot spot for regulated splicing in the rat brain.

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Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

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High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants

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High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method

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One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

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Prediction of human mRNA donor and acceptor sites from the DNA sequence.

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Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

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Characterization and prediction of alternative splice sites

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American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the Euro

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Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants

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Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

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Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C

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10.1038/EJHG.2008.52

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