Familial Hypertrophic Cardiomyopathy
Last Posted: Dec 15, 2020
- Angiotensinogen M235T polymorphism and susceptibility to hypertrophic cardiomyopathy in Asian population: A meta analysis.
Zhen Zhen et al. Journal of the renin-angiotensin-aldosterone system : JRAAS 21(4) 1470320320978100
- Genetic variant affecting the myosin light chain 2 related to familial hypertrophic cardiomyopathy.
Gil Wilmar Saldarriaga et al. Intractable & rare diseases research 2020 Nov 9(4) 229-232
- Familial Hypertrophic Cardiomyopathy: Late Potentials and Other Prognostic Markers.
Chaves-Markman Ândrea et al. Cureus 2020 Jan 12(1) e6530
- CLINGEN Actionability Report for Familial Hypertrophic Cardiomyopathy - ACTC1, CSRP3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1
ClinGen Actionability Working Group
- Familial hypertrophic cardiomyopathy - Identification of cause and risk stratification through exome sequencing.
Biswas Amitabh et al. Gene 2018 Mar
- Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy.
Zhou Nianwei et al. European journal of medical genetics 2018 Mar
- Clinical and genetic diagnosis of familial hypertrophic cardiomyopathy: Results in pediatric cardiology.
Cardoso Bárbara et al. Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2017 Feb
- Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis.
Saghafi Hoorieh et al. Iranian journal of public health 2016 Mar 45(3) 329-339
From NHLBI health topic site
- Familial hypertrophic cardiomyopathy
From NCATS Genetic and Rare Diseases Information Center
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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