Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?

Background. With the improvement in genetic testing over time, double-heterozygous mutations are more often found by coincidence in families with hypertrophic cardiomyopathy (HCM). Double heterozygosity can be a cause of the wellknown clinical diversity within HCM families. Methods and results. We d...

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Main Authors: van Rijsingen, I.A.W., Hermans-van Ast, J.F., Arens, Y.H.J.M., Schalla, S.M., de Die-Smulders, C.E.M., van den Wijngaard, A., Pinto, Y.M.
Formato: Artigo
Idioma:Inglês
Publicado em: Bohn Stafleu van Loghum 2009
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2804077/
https://ncbi.nlm.nih.gov/pubmed/20087448
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