Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients | Zendy

Feifan Xiao | Zendy; Qiufen Wei | Zendy; Bingbing Wu | Zendy; Xu Liu | Zendy; Aiyao Mading | Zendy; Lin Yang | Zendy; Yan Li | Zendy; Fang Liu | Zendy; Xinnian Pan | Zendy; Huijun Wang | Zendy

Open Access

Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients

Author(s) -

Feifan Xiao,

Qiufen Wei,

Bingbing Wu,

Xu Liu,

Aiyao Mading,

Lin Yang,

Yan Li,

Fang Liu,

Xinnian Pan,

Huijun Wang

Publication year - 2020

Publication title -

translational pediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.702

H-Index - 13

eISSN - 2224-4344

pISSN - 2224-4336

DOI - 10.21037/tp.2019.12.02

Subject(s) - medicine , exome sequencing , missense mutation , cardiomyopathy , dilated cardiomyopathy , pediatrics , bioinformatics , genetics , mutation , heart failure , gene , biology

FLNC encodes actin-binding protein and is mainly concentrated in skeletal and cardiac muscle. Mutations in FLNC were found in cardiomyopathies. To date, studies on FLNC-cardiomyopathies have mainly been reported in adults. There are limited studies that have investigated FLNC variants in pediatric patients with cardiomyopathies.

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