VARIABILITY OF PHENOTYPIC EXPRESSION IN PATIENTS CARRIERS OF APOE GENE MUTATIONS

被引：0
|
作者：
Marmontel, O. [1 ]
di Filippo, M. [1 ]
Galland, M. [1 ]
Dumoux, M. [1 ]
Marcais, C. [2 ]
Villard, A. [3 ]
Charriere, S. [3 ]
Moulin, P. [3 ]
Sassolas, A. [1 ]
机构：
[1] Hop Louis Pradel, Biochemestry, Lyon, France
[2] Ctr Hosp Lyon Sud, Biochemestry, Lyon, France
[3] Hop Louis Pradel, Endocrinol, Lyon, France
来源：
ATHEROSCLEROSIS | 2015年 / 241卷 / 01期
关键词：
D O I：
10.1016/j.atherosclerosis.2015.04.132
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
EAS-0340
引用
收藏
页码：E36 / E36
页数：1
相关论文
共 50 条
  • [21] Patterns of missplicling caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression
    Zhang, Katherine
    Nowak, Inga
    Rushlow, Diane
    Gallie, Brenda L.
    Lohmann, Dietmar R.
    HUMAN MUTATION, 2008, 29 (04) : 475 - 484
  • [22] Phenotypic heterogeneity in patients with mutations in the IGHMBP2 gene
    Gomez-Garcia de la Banda, M.
    Felipe-Rucian, A.
    Gomez, D.
    Gratacos, M.
    Sanchez-Montanez, A.
    Gran, F.
    Bernal, S.
    Tizzano, E.
    Gamez, J.
    Munell, F.
    NEUROMUSCULAR DISORDERS, 2017, 27 : S135 - S135
  • [23] Phenotypic Homogeneity and Genotypic Variability in a Large Series of Congenital Isolated ACTH-Deficiency Patients with TPIT Gene Mutations
    Couture, C.
    Saveanu, A.
    Barlier, A.
    Carel, J. C.
    Fassnacht, M.
    Flueck, C. E.
    Houang, M.
    Maes, M.
    Phan-Hug, F.
    Enjalbert, A.
    Drouin, J.
    Brue, T.
    Vallette, S.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2012, 97 (03): : E486 - E495
  • [24] Phenotypic variability and origins of mutations in the gene encoding 3β-hydroxysteroid dehydrogenase type II
    McCartin, S
    Russell, AJ
    Fisher, RA
    Wallace, AM
    Arnhold, IJP
    Mason, JI
    Varley, J
    Mendonca, BB
    Sutcliffe, RG
    JOURNAL OF MOLECULAR ENDOCRINOLOGY, 2000, 24 (01) : 75 - 82
  • [25] MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE - GENETIC-DETERMINANTS FOR THE PHENOTYPIC VARIABILITY OF HYPERPHENYLALANINEMIA
    GUTTLER, F
    GULDBERG, P
    ACTA PAEDIATRICA, 1994, 83 : 49 - 56
  • [26] Phenotypic Variability in Patients with Osteogenesis Imperfecta Caused by BMP1 Mutations
    Pollitt, Rebecca C.
    Saraff, Vrinda
    Dalton, Ann
    Webb, Emma A.
    Shaw, Nick J.
    Sobey, Glenda J.
    Mughal, M. Zulf
    Hobson, Emma
    Ali, Farhan
    Bishop, Nicholas J.
    Arundel, Paul
    Hogler, Wolfgang
    Balasubramanian, Meena
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (12) : 3150 - 3156
  • [27] Phenotypic variability in caucasian and japanese patients with matched LQT1 mutations
    Liu, Judy F.
    Goldenberg, Ilan
    Moss, Arthur J.
    Shimizu, Wataru
    Wilde, Arthur A.
    Hofman, Nynke
    McNitt, Scott
    Zareba, Wojciech
    Miyamato, Yoshihiro
    Robinson, Jennifer L.
    Andrews, Mark L.
    ANNALS OF NONINVASIVE ELECTROCARDIOLOGY, 2008, 13 (03) : 234 - 241
  • [28] Prominent phenotypic variability associated with mutations in Progranulin
    Kelley, Brendan J.
    Haidar, Wael
    Boeve, Bradley F.
    Baker, Matt
    Graff-Radford, Neill R.
    Krefft, Thomas
    Frank, Andrew R.
    Jack, Clifford R., Jr.
    Shiung, Maria
    Knopman, David S.
    Josephs, Keith A.
    Parashos, Sotirios A.
    Rademakers, Rosa
    Hutton, Mike
    Pickering-Brown, Stuart
    Adamson, Jennifer
    Kuntz, Karen M.
    Dickson, Dennis W.
    Parisi, Joseph E.
    Smith, Glenn E.
    Ivnik, Robert J.
    Petersen, Ronald C.
    NEUROBIOLOGY OF AGING, 2009, 30 (05) : 739 - 751
  • [29] Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1
    Henderson, Robert H.
    Mackay, Donna S.
    Li, Zheng
    Moradi, Phillip
    Sergouniotis, Panagiotis
    Russell-Eggitt, Isabelle
    Thompson, Dorothy A.
    Robson, Anthony G.
    Holder, Graham E.
    Webster, Andrew R.
    Moore, Anthony T.
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2011, 95 (06) : 811 - 817
  • [30] Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene
    Tarugi, P
    Lonardo, A
    Gabelli, C
    Sala, F
    Ballarini, G
    Cortella, I
    Previato, L
    Bertolini, S
    Cordera, R
    Calandra, S
    JOURNAL OF LIPID RESEARCH, 2001, 42 (10) : 1552 - 1561
12345