New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy.

Authors :: Aguib Y
Allouba M
Walsh R
Ibrahim AM
Halawa S
Afify A
Hosny M
Theotokis PI
Galal A
Elshorbagy S
Roshdy M
Kassem HS
Ellithy A
Buchan R
Whiffin N
Anwer S
Cook SA
Moustafa A
ElGuindy A
Ware JS
Barton PJR
Yacoub M
Source :: Circulation [Circulation] 2021 Aug 31; Vol. 144 (9), pp. 754-757. Date of Electronic Publication: 2021 Aug 30.
Publication Year :: 2021

Subjects :: Alleles
Cardiac Myosins genetics
Cardiac Myosins metabolism
Consanguinity
Frameshift Mutation
Genotype
High-Throughput Nucleotide Sequencing
Humans
Immunohistochemistry
Myosin Heavy Chains genetics
Myosin Heavy Chains metabolism
Pedigree
Transcriptome
Cardiomyopathy, Hypertrophic diagnosis
Cardiomyopathy, Hypertrophic etiology
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation

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