Homozygosity Mapping and Exome Sequencing Reveal GATAD1 Mutation in Autosomal Recessive Dilated Cardiomyopathy | Zendy

Jeanne L. Theis | Zendy; Katharine M. Sharpe | Zendy; Martha Matsumoto | Zendy; High Seng Chai | Zendy; Asha Nair | Zendy; Jason D. Theis | Zendy; Mariza de Andrade | Zendy; Eric D. Wieben | Zendy; Virginia V. Michels | Zendy; Timothy M. Olson | Zendy

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Homozygosity Mapping and Exome Sequencing Reveal GATAD1 Mutation in Autosomal Recessive Dilated Cardiomyopathy

Author(s) -

Jeanne L. Theis,

Katharine M. Sharpe,

Martha Matsumoto,

High Seng Chai,

Asha Nair,

Jason D. Theis,

Mariza de Andrade,

Eric D. Wieben,

Virginia V. Michels,

Timothy M. Olson

Publication year - 2011

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.111.961052

Subject(s) - exome sequencing , dilated cardiomyopathy , genetics , disease gene identification , mutation , cardiomyopathy , biology , exome , compound heterozygosity , medicine , gene , heart failure

Dilated cardiomyopathy (DCM) is a heritable, genetically heterogeneous disorder that typically exhibits autosomal dominant inheritance. Genomic strategies enable discovery of novel, unsuspected molecular underpinnings of familial DCM. We performed genome-wide mapping and exome sequencing in a unique family wherein DCM segregated as an autosomal recessive (AR) trait.

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