letter Open AccessTop 10% cited
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling
Journal of Medical Genetics · 2005 · Vol. 42(10) · pp. e59–e59
Jodie Ingles(Centenary Institute)A Doolan(Centenary Institute)C Chiu(Centenary Institute)J Seidman(Harvard University)C Seidman(Harvard University)C Semsarian✉(Centenary Institute)
Abstract
Multiple gene mutations occurring in HCM families may result in a more severe clinical phenotype because of a "double dose" effect. This highlights the importance of screening the entire panel of HCM genes even after a single mutation has been identified.
Cardiomyopathy and Myosin StudiesViral Infections and Immunology ResearchTrypanosoma species research and implicationsProbandHypertrophic cardiomyopathyMutationGeneticsGene mutationGenetic counselingBiologyGeneMedicineInternal medicine
MeSH terms
AdolescentAdultAgedAged, 80 and overCardiomyopathy, HypertrophicChromatography, High Pressure LiquidFemaleGenetic CounselingHumansMaleMiddle AgedMutationPedigreePhenotypeCohort Studies
Funding
- Medical Research Council
- National Health and Medical Research Council
Citations
388
FWCI
5.25
field-weighted impact
References
26
Percentile
96%
vs. same field & year
Citations per year
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