Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy [Letter].
作者信息
Idrus Hasta Handayani
机构信息
Department of Biomedical Sciences, Postgraduate School, Hasanuddin University (UNHAS), Makassar, Indonesia.
Center for Biomedical Research, Research Organization for Health, National Research and Innovation Agency (BRIN), Cibinong Science Center, Cibinong-Bogor, West Java, Indonesia.
出版信息
J Multidiscip Healthc. 2024 Dec 7;17:5811-5812. doi: 10.2147/JMDH.S508083. eCollection 2024.
Abstract
摘要
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本文引用的文献
1
Identification of a Missense Mutation in the Gene from a Chinese Family with Restrictive Cardiomyopathy.来自一个患有限制型心肌病的中国家庭的基因中一个错义突变的鉴定。
J Multidiscip Healthc. 2024 Nov 20;17:5363-5373. doi: 10.2147/JMDH.S494831. eCollection 2024.
2
Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.采用全外显子组测序技术对中国人群接受心脏移植的扩张型心肌病患者进行遗传特征分析。
J Transl Med. 2023 Jul 17;21(1):476. doi: 10.1186/s12967-023-04282-5.
3
Case Report: A Chinese Family of Hypertrophic Cardiomyopathy Caused by a Novel Splicing Mutation in the Gene.病例报告：一个因基因中的新型剪接突变导致肥厚型心肌病的中国家庭。
Front Genet. 2022 Jun 20;13:894791. doi: 10.3389/fgene.2022.894791. eCollection 2022.
4
Genetics of Cardiomyopathy: Clinical and Mechanistic Implications for Heart Failure.心肌病的遗传学：对心力衰竭的临床及机制影响
Korean Circ J. 2021 Oct;51(10):797-836. doi: 10.4070/kcj.2021.0154. Epub 2021 Jul 22.
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A mutation update for the FLNC gene in myopathies and cardiomyopathies.肌病和心肌病中 FLNC 基因突变的更新。
Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20.
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