Familial Left Ventricular Noncompaction Associated With a Novel Mutation in the Alphacardiac Actin Gene (vol 67, pg 857, 2014)

被引:0
|
作者
Rodriguez-Serrano
机构
来源
REVISTA ESPANOLA DE CARDIOLOGIA | 2015年 / 68卷 / 02期
关键词
D O I
10.1016/j.rec.2014.10.007
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:170 / 171
页数:2
相关论文
共 50 条
  • [31] Novel a-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation
    De Luca, A.
    Guida, V.
    Biagini, T.
    Mazza, T.
    Hozhabri, H.
    Sparascio, F. Piceci
    Gaudio, C.
    Letizia, C.
    Russo, M. A.
    Galea, N.
    Chimenti, C.
    Frustaci, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 921 - 922
  • [32] Novel Mutation in the α-Myosin Heavy Chain Gene Is Associated With Sick Sinus Syndrome (vol 8, pg 400, 2015)
    Ishikawa
    CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY, 2021, 14 (05): : 545 - 545
  • [33] Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene (vol 60, pg 332, 2014)
    Tamhankar, P. M.
    Iyer, S.
    Sanghavi, S.
    Khopkar, U.
    JOURNAL OF POSTGRADUATE MEDICINE, 2020, 66 (01)
  • [34] A novel mutation in NIPBL in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death (vol 67, pg 283, 2014)
    Jones, G. E.
    Tanteles, G. A.
    Vasudevan, P. C.
    JOURNAL OF CLINICAL PATHOLOGY, 2014, 67 (11) : 1018 - 1018
  • [36] Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene (vol 73, pg 65, 2002)
    Merlini, L
    Carbone, I
    Capanni, C
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2003, 74 (01): : 142 - 142
  • [37] Dilated Cardiomyopathy Phenotype-Associated Left Ventricular Noncompaction and Congenital Long QT Syndrome Type-2 in Infants With KCNH2 Gene Mutation: Anesthetic Considerations
    Maddali, Madan Mohan
    Thomas, Eapen
    Al Abri, Ismail Abdullah
    Patel, Malay Hemantlal
    Al Maskari, Salim Nasser
    Al Yamani, Mohammed Ismail
    JOURNAL OF CARDIOTHORACIC AND VASCULAR ANESTHESIA, 2022, 36 (09) : 3662 - 3667
  • [38] Novel polymorphisms in the caprine PrP gene: A codon 142 mutation associated with scrapie incubation period (vol 77, pg 2885, 1996)
    Goldmann, W
    Martin, T
    Foster, J
    Hughes, S
    Smith, G
    Hughes, K
    Dawson, M
    Hunter, N
    JOURNAL OF GENERAL VIROLOGY, 1997, 78 : 697 - 697
  • [39] A Novel Thr56Met Mutation of the Autosomal Recessive Hypercholesterolemia Gene Associated with Hypercholesterolemia (vol 17, pg 131, 2010)
    Harada, Koji
    Miyamoto, Yoshihiro
    Morisaki, Hiroko
    Ohta, Naotaka
    Yamanaka, Itaru
    Kokubo, Yoshihiro
    Makino, Hisashi
    Harada-Shiba, Mariko
    Okayama, Akira
    Tomoike, Hitonobu
    Okamura, Tomonori
    Saito, Yoshihiko
    Yoshimasa, Yasunao
    Morisaki, Takayuki
    JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 2010, 17 (05) : 537 - 537
  • [40] A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family (vol 13, 75, 2014)
    Qu, Ling-hui
    Jin, Xin
    Li, Liang-mao
    Li, Shi-ying
    Yin, Zheng-qin
    Xie, Han-ping
    LIPIDS IN HEALTH AND DISEASE, 2014, 13