Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction | Zendy

Matthew N. Bainbridge | Zendy; Erica E. Davis | Zendy; Wen-Yee Choi | Zendy; Amy L. Dickson | Zendy; Hugo R. Martinez | Zendy; Min Wang | Zendy; Huyen Dinh | Zendy; Donna M. Muzny | Zendy; Ricardo Pignatelli | Zendy; Nicholas Katsanis | Zendy; Eric Boerwinkle | Zendy; Richard A. Gibbs | Zendy; John L. Jefferies | Zendy

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Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction

Author(s) -

Matthew N. Bainbridge,

Erica E. Davis,

Wen-Yee Choi,

Amy L. Dickson,

Hugo R. Martinez,

Min Wang,

Huyen Dinh,

Donna M. Muzny,

Ricardo Pignatelli,

Nicholas Katsanis,

Eric Boerwinkle,

Richard A. Gibbs,

John L. Jefferies

Publication year - 2015

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.115.001026

Subject(s) - biology , exome sequencing , genetics , frameshift mutation , missense mutation , cardiomyopathy , haploinsufficiency , zebrafish , left ventricular noncompaction , allele , mutation , medicine , heart failure , phenotype , gene

Left ventricular noncompaction (LVNC) is an autosomal-dominant, genetically heterogeneous cardiomyopathy with variable severity, which may co-occur with cardiac hypertrophy.

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