논문KCI 등재
A novel c.563 T>G, p.L189R lamin A/C mutation in identical twins with dilated cardiomyopathy
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
주제분류내과학
초록
.
Abstract
.
참고문헌 (5)
- Hershberger RE, "Update 2011: clinical and genetic issues in familial dilated cardiomyopathy", J Am Coll Cardiol, 57, pp.1641~1649 (2011)
- Capell BC, "Human laminopathies: nuclei gone genetically awry", Nat Rev Genet, 7, pp.940~952 (2006)
- Cattin ME, "‘State-of-the-heart’ of cardiac laminopathies", Curr Opin Cardiol, 28, pp.297~304 (2013)
- Pasotti M, "Long-term outcome and risk stratification in dilated cardiolaminopathies", J Am Coll Cardiol, 52, pp.1250~1260 (2008)
- van Rijsingen IA, "Risk factors for malignant ventricular arrhythmias in lamin a", c mutation carriers: a European cohort study, 2012, pp.59, 493~500
관련 논문AI추천
Delayed onset of hypertrophic cardiomyopathy in a 61‑year‑old male patient with MYBPC3 mutation김명신, 장수연, Hoon Seok Kim, Jong‑Chan Youn, Mi‑Hyang Jung한국심초음파학회 · Journal of Cardiovascular Imaging2024 · 제32권 Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A김만진, 김소연, 박성섭, 박현웅, 배은정, 서수현, 성문우, 송미경, 안경진, 이승준, 이지수, 조성임, 최종문대한진단검사의학회 · Annals of Laboratory Medicine2018 · 제38권 제1호A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory FailureKwon Hyuk Sung, Park Jong Eun, Yeo Yoomi대한진단검사의학회 · Annals of Laboratory Medicine2021 · 제41권 제6호Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture박형준, 이영건, 이정환, 최영철대한신경과학회 · Journal of Clinical Neurology2017 · 제13권 제4호Genetic insights into hypertrophic cardiomyopathy: pathogenesis, diagnosis, and therapeutic implicationsEui‑Young Choi, Hyemoon Chung, Kyung‑A. Lee한국심초음파학회 · Journal of Cardiovascular Imaging2025 · 제33권 Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene김세훈, 김승민, 박기덕, 박형준, 신하영, 이정환, 이지현, 최영철, 홍지만대한신경과학회 · Journal of Clinical Neurology2017 · 제13권 제1호
이 간행물의 다른 논문 (25건)
Application of photodynamic therapy in gastrointestinal disorders: an outdated or re-emerging technique?이한희, Tayyaba Hasan, 최명규pp. 1-10New therapeutic agents in diabetic nephropathy김예니, 박철휘pp. 11-25Prevention of type 2 diabetes mellitus in women with previous gestational diabetes mellitus곽수헌, 장학철, 문준호pp. 26-41CRISPR-Cas9: a promising tool for gene editing on induced pluripotent stem cells김은지, 강기호, 주지현pp. 42-61Is islet transplantation a realistic approach to curing diabetes?진상만, 김광원pp. 62-66