A DEEP INTRONIC VARIANT IN LDLR CAUSING FAMILIAL HYPERCHOLESTEROLEMIA: TIME TO WIDEN THE SCOPE?

被引:0
|
作者
Reeskamp, L. F. [1 ]
Hartgers, M. L. [1 ]
Peter, J. [2 ]
Dallinga-Thie, G. M. [2 ]
Grefhorst, A. [2 ]
Zuurbier, L. C. A. [3 ]
Defesche, J. C. [3 ]
Hovingh, G. K. [1 ]
机构
[1] Acad Med Ctr, Dept Vasc Med, Amsterdam, Netherlands
[2] Acad Med Ctr, Dept Expt Vasc Med, Amsterdam, Netherlands
[3] Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands
关键词
D O I
10.1016/j.atherosclerosis.2018.06.894
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
LB1:4
引用
收藏
页码:E4 / E4
页数:1
相关论文
共 50 条
  • [1] A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia Time to Widen the Scope?
    Reeskamp, Laurens F.
    Hartgers, Merel L.
    Peter, Jorge
    Dallinga-Thie, Geesje M.
    Zuurbier, Linda
    Defesche, Joep C.
    Grefhorst, Aldo
    Hovingh, G. Kees
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2018, 11 (12): : e002385
  • [2] The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia
    Haochang Hu
    Ruoyu Chen
    Yingchu Hu
    Jian Wang
    Shaoyi Lin
    Xiaomin Chen
    Lipids in Health and Disease, 20
  • [3] The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia
    Hu, Haochang
    Chen, Ruoyu
    Hu, Yingchu
    Wang, Jian
    Lin, Shaoyi
    Chen, Xiaomin
    LIPIDS IN HEALTH AND DISEASE, 2021, 20 (01)
  • [4] LDLR Variant Databases and Familial Hypercholesterolemia Population Studies
    Andersen, Lars
    Estrella, Lisa
    Andersen, Rolf
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2017, 69 (06) : 754 - 755
  • [5] Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia
    Reeskamp, Laurens F.
    Balvers, Manon
    Peter, Jorge
    van de Kerkhof, Laura
    Klaaijsen, Lisette N.
    Motazacker, Mahdi M.
    Grefhorst, Aldo
    van Riel, Natal A. W.
    Hovingh, G. Kees
    Defesche, Joep C.
    Zuurbier, Linda
    ATHEROSCLEROSIS, 2021, 321 : 14 - 20
  • [6] An Iranian Armenian LDLR frameshift mutation causing familial hypercholesterolemia
    Jensen, HK
    Jensen, LG
    Hansen, PS
    Faergeman, O
    Gregersen, N
    CLINICAL GENETICS, 1996, 49 (02) : 88 - 90
  • [7] REPLY: Familial Hypercholesterolemia Independent Malignity and LDLR Variant Databases
    Khera, Amit V.
    Kathiresan, Sekar
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2017, 69 (06) : 755 - 755
  • [8] Detection of splice site mutations in the LDLR gene causing Familial Hypercholesterolemia
    McIlhatton, B
    Kirk, CW
    Lyttle, K
    Beattie, ED
    Hart, P
    Nicholls, DP
    Young, IS
    Graham, CA
    JOURNAL OF MEDICAL GENETICS, 2003, 40 : S80 - S80
  • [9] Two Novel Disease-Causing Mutations in the LDLR of Familial Hypercholesterolemia
    Hu, Haochang
    Shu, Tian
    Ma, Jun
    Chen, Ruoyu
    Wang, Jian
    Wang, Shuangshuang
    Lin, Shaoyi
    Chen, Xiaomin
    FRONTIERS IN GENETICS, 2021, 12
  • [10] A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family
    Shu, Hongyan
    Chi, Jingwei
    Li, Jing
    Zhang, Wei
    Lv, Wenshan
    Wang, Jie
    Deng, Yujie
    Hou, Xu
    Wang, Yangang
    PLOS ONE, 2017, 12 (12):