Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients | Zendy

Juan Gómez | Zendy; Rebeca Lorca | Zendy; Julián R. Reguero | Zendy; César Morı́s | Zendy; Marı́a Martı́n | Zendy; Salvador Tranche | Zendy; Belén Alonso | Zendy; Sara Iglesias Sánchez | Zendy; Victoria Álvarez | Zendy; Beatriz DíazMolina | Zendy; Pablo Avanzas | Zendy; Eliécer Coto | Zendy

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Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients

Author(s) -

Juan Gómez,

Rebeca Lorca,

Julián R. Reguero,

César Morı́s,

Marı́a Martı́n,

Salvador Tranche,

Belén Alonso,

Sara Iglesias Sánchez,

Victoria Álvarez,

Beatriz DíazMolina,

Pablo Avanzas,

Eliécer Coto

Publication year - 2017

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-3268

pISSN - 1942-325X

DOI - 10.1161/circgenetics.116.001584

Subject(s) - missense mutation , genetics , penetrance , hypertrophic cardiomyopathy , filamin , population , candidate gene , medicine , biology , gene , mutation , phenotype , cell , environmental health , cytoskeleton

Recent exome sequencing studies identified filamin C ( FLNC ) as a candidate gene for hypertrophic cardiomyopathy (HCM). Our aim was to determine the rate of FLNC candidate variants in a large cohort of HCM patients who were also sequenced for the main sarcomere genes.

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