Article
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.
The Journal of molecular diagnostics : JMD - 1 Sept 2012
Coto Eliecer, Reguero Julián R, Palacín María, Gómez Juan, Alonso Belén, Iglesias Sara, Martín María, Tavira Beatriz, Díaz-Molina Beatriz, Morales Carlos, Morís César, Rodríguez-Lambert José L, Corao Ana I, Díaz Marta, Alvarez Victoria
Abstract excerpt
MYH7 mutations are found in ~20% of hypertrophic cardiomyopathy (HCM) patients. Currently, mutational analysis is based on the sequencing of the coding exons and a few exon-flanking intronic nucleotides, resulting in omission of single-exon deletions and mutations in internal intronic, promoter, and 3' UTR regions. We amplified and sequenced large MYH7 fragments in 60 HCM patients without previously identified...
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