IDENTIFICATION OF P.LEU167DEL APOE GENE MUTATION BY NEXT GENERATION SEQUENCING IN A LARGE HYPERCHOLESTEROLEMIC FAMILY

被引：0
|
作者：
Scrimali, C. [1 ]
Spina, R. [1 ]
Ingrassia, V. [1 ]
Cefalu, A. B. [1 ]
Brucato, F. [1 ]
Misiano, G. [1 ]
Valenti, V. [1 ]
Noto, D. [1 ]
Altieri, G. I. [1 ]
Fayer, F. [1 ]
Giammanco, A. [1 ]
Barbagallo, C. [1 ]
Averna, M. [1 ]
机构：
[1] Univ Palermo, Dipartimento Biomed Med Interna & Specialist, Palermo, Italy
来源：
ATHEROSCLEROSIS | 2019年 / 287卷
关键词：
D O I：
10.1016/j.atherosclerosis.2019.06.647
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
EAS19-0406
引用
收藏
页码：E213 / E213
页数：1
相关论文
共 50 条
  • [1] APOE p.Leu167del mutation in familial hypercholesterolemia
    Awan, Zuhier
    Choi, Hong Y.
    Stitziel, Nathan
    Ruel, Isabelle
    Bamimore, Mary Aderayo
    Husa, Regina
    Gagnon, Marie-Helene
    Wang, Rui-Hao L.
    Peloso, Gina M.
    Hegele, Robert A.
    Seidah, Nabil G.
    Kathiresan, Sekar
    Genest, Jacques
    [J]. ATHEROSCLEROSIS, 2013, 231 (02) : 218 - 222
  • [2] APOE P.LEU167DEL MUTATION IN FAMILIAL HYPERCHOLESTEROLEMIA
    Awan, Z.
    Choi, H. Y.
    Stitziel, N.
    Ruel, I.
    Husa, R.
    Gagnon, M.
    Wang, R. L.
    Seidah, N. G.
    Kathiresan, S.
    Genest, J.
    [J]. CANADIAN JOURNAL OF CARDIOLOGY, 2013, 29 (10) : S379 - S380
  • [3] Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation
    Marduel, Marie
    Ouguerram, Khadija
    Serre, Valerie
    Bonnefont-Rousselot, Dominique
    Marques-Pinheiro, Alice
    Berge, Knut Erik
    Devillers, Martine
    Luc, Gerald
    Lecerf, Jean-Michel
    Tosolini, Laurent
    Erlich, Daniele
    Peloso, Gina M.
    Stitziel, Nathan
    Nitchke, Patrick
    Jais, Jean-Philippe
    Abifadel, Marianne
    Kathiresan, Sekar
    Leren, Trond Paul
    Rabes, Jean-Pierre
    Boileau, Catherine
    Varret, Mathilde
    [J]. HUMAN MUTATION, 2013, 34 (01) : 83 - 87
  • [4] The p.Leu167del Mutation in APOE Gene causes Autosomal Dominant Hypercholesterolemia by Down-Regulation of LDL Receptor Expression in Hepatocytes
    Cenarro, Ana
    Martin, Cesar
    Stef, Marianne
    de Castro-Ords, Isabel
    Etxebarria, Aitor
    Palacios, Lourdes
    Mateo-Gallego, Rocio
    Ostolaza, Helena
    Tejedor, Teresa
    Civeira, Fernando
    [J]. CIRCULATION, 2014, 130
  • [5] The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes
    Cenarro, Ana
    Etxebarria, Aitor
    de Castro-Oros, Isabel
    Stef, Marianne
    Bea, Ana M.
    Palacios, Lourdes
    Mateo-Gallego, Rocio
    Benito-Vicente, Asier
    Ostolaza, Helena
    Tejedor, Teresa
    Martin, Cesar
    Civeira, Fernando
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2016, 101 (05): : 2113 - 2121
  • [6] Inherited lipemic splenomegaly and the spectrum of apolipoprotein E p.Leu167del mutation phenotypic variation
    Okorodudu, Daniel E.
    Crowley, Matthew J.
    Sebastian, Siby
    Rowell, Jennifer V.
    Guyton, John R.
    [J]. JOURNAL OF CLINICAL LIPIDOLOGY, 2013, 7 (06) : 566 - 572
  • [7] LIPID-LOWERING RESPONSE IN SUBJECTS WITH THE P.(LEU167DEL) MUTATION IN APOE GENE
    Bea, A. M.
    Lamiquiz-Moneo, I.
    Marco-Benedi, V.
    Mateo-Gallego, R.
    Perez-Calahorra, S.
    Jarauta, E.
    Martin, C.
    Cenarro, A.
    Civeira, F.
    [J]. ATHEROSCLEROSIS, 2019, 287 : E109 - E109
  • [8] Lipid-lowering response in subjects with the p.(Leu167del) mutation in the APOE gene
    Bea, Ana M.
    Lamiquiz-Moneo, Itziar
    Marco-Benedi, Victoria
    Mateo-Gallego, Rocio
    Perez-Calahorra, Sofia
    Jarauta, Estibaliz
    Martin, Cesar
    Cenarro, Ana
    Civeira, Fernando
    [J]. ATHEROSCLEROSIS, 2019, 282 : 143 - 147
  • [9] IDENTIFICATION OF A NOVEL NONSENSE MUTATION IN THE APOB GENE BY NEXT GENERATION SEQUENCING
    Lanza, M.
    Brucato, F.
    Scrimali, C.
    Fasciana, T. M. G.
    Spina, R.
    Noto, D.
    Giammanco, A.
    Barbagallo, C. M.
    Ganci, A.
    Cefalu, A. B.
    Averna, M.
    [J]. ATHEROSCLEROSIS, 2023, 379 : S116 - S116
  • [10] Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing
    Khan, Amjad
    Wang, Rongrong
    Han, Shirui
    Ahmad, Wasim
    Zhang, Xue
    [J]. GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 22 (03) : 159 - 164
12345