DO MTTP MUTATIONS OVERCOME HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA? SEGREGATION ANALYSIS IN A FAMILY WITH BOTH LDLR AND MTTP MUTATIONS

被引:0
|
作者
Di Filippo, M. [1 ,2 ]
Peretti, N. [2 ,3 ]
Moulin, P. [2 ,4 ,5 ]
Jacobs, C. [1 ]
Chebel, S. [1 ]
Lachaux, A. [3 ]
Sassolas, A. [1 ,2 ]
机构
[1] Hosp Civils Lyon, Dept Biochem, Lyon, France
[2] INSERM, U1060, CarMeN, Lyon, France
[3] Dept Pediat Gastroenterol, Lyon, France
[4] Hosp Civils Lyon, Dept Endocrinol, Lyon, France
[5] Univ Lyon 1, F-69365 Lyon, France
关键词
D O I
暂无
中图分类号
R6 [外科学];
学科分类号
1002 ; 100210 ;
摘要
251
引用
收藏
页码:55 / 55
页数:1
相关论文
共 50 条
  • [31] Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia
    Xiaohuan Cheng
    Junfa Ding
    Fang Zheng
    Xin Zhou
    Chenling Xiong
    Molecular Biology Reports, 2009, 36 : 2053 - 2057
  • [32] Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia
    Cheng, Xiaohuan
    Ding, Junfa
    Zheng, Fang
    Zhou, Xin
    Xiong, Chenling
    MOLECULAR BIOLOGY REPORTS, 2009, 36 (08) : 2053 - 2057
  • [33] Generation of two familial hypercholesterolemia patient-specific induced pluripotent stem cell lines harboring heterozygous mutations in the LDLR gene
    Gao, Jingshan
    Li, Juana
    Xu, Lingyun
    Yan, Christopher D.
    Knowles, Joshua W.
    Wu, Joseph C.
    STEM CELL RESEARCH, 2024, 78
  • [34] Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia
    Pisciotta, Livia
    Oliva, Claudio Priore
    Cefalu, Angelo Baldassare
    Noto, Davide
    Bellocchio, Antonella
    Fresa, Raffaele
    Cantafora, Alfredo
    Patel, Dilip
    Averna, Maurizio
    Tarugi, Patrizia
    Calandra, Sebastiano
    Bertolini, Stefano
    ATHEROSCLEROSIS, 2006, 186 (02) : 433 - 440
  • [35] Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene
    Kubalska, Jolanta
    Chmara, Magdalena
    Limon, Janusz
    Wierzbicka, Aldona
    Prokurati, Sylwester
    Szaplyko, Janina
    Kowalik, Agnieszka
    Mierzewska, Hanna
    Defesche, Joep C.
    Pronicka, Ewa
    JOURNAL OF APPLIED GENETICS, 2008, 49 (01) : 109 - 113
  • [36] A COMPARATIVE ANALYSIS OF PHENOTYPIC PREDICTORS OF MUTATIONS IN FAMILIAL HYPERCHOLESTEROLEMIA
    Chan, Dick C.
    Pang, Jing
    Hooper, Amanda J.
    Bell, Damon A.
    Bates, Timothy R.
    Burnett, John R.
    Watts, Gerald F.
    ATHEROSCLEROSIS SUPPLEMENTS, 2018, 32 : 68 - 68
  • [37] A Comparative Analysis of Phenotypic Predictors of Mutations in Familial Hypercholesterolemia
    Chan, Dick C.
    Pang, Jing
    Hooper, Amanda J.
    Bell, Damon A.
    Bates, Timothy R.
    Burnett, John R.
    Watts, Gerald F.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2018, 103 (04): : 1704 - 1714
  • [38] Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia
    Hu, Ya-nan
    Wu, Min
    Yu, Hong-ping
    Wu, Qiu-yan
    Chen, Ying
    Zhang, Jian-Hui
    Ruan, Dan-dan
    Zhang, Yan-ping
    Zou, Jing
    Zhang, Li
    Lin, Xin-fu
    Fang, Zhu-ting
    Liao, Li-Sheng
    Lin, Fan
    Li, Hong
    Luo, Jie-Wei
    PLOS ONE, 2024, 19 (10):
  • [39] Frequency of the most common mutations in the LDLR gene in patients with familial hypercholesterolemia from RN Macedonia
    Kiprijanovska, Sanja
    Shehu, Enes
    Dichevska, Hristina
    Vavlukis, Marija
    Kedev, Sasko
    Dimovski, Aleksandar
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 155 - 155
  • [40] FLOW CYTOMETRY-BASED FUNCTIONAL VALIDATION OF LDLR MUTATIONS FOR AN ACCURATE DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA
    Etxebarria, A.
    Palacios, L.
    Stef, M.
    Tejedor, D.
    Oleaga, A.
    Irigoyen, L.
    Torres, B.
    Ostolaza, H.
    Martin, C.
    ATHEROSCLEROSIS SUPPLEMENTS, 2011, 12 (01) : 177 - 177