A novel loss of function mutation of lipoprotein lipase [Cys239→Trp] associated with type I hyperlipoproteinemia (HLP) in a patient with recurrent severe pancreatitis.

被引：0
|
作者：
Matthaei, S
Hoffmann, MM
Kausch, C
Luft, D
Schmülling, RM
Rett, K
Jacob, S
März, W
Häring, HU
机构：
来源：
DIABETOLOGIA | 1999年 / 42卷
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D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
772
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页码：A206 / A206
页数：1
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  • [1] Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys239→Trp, associated with recurrent severe pancreatitis
    Hoffmann, MM
    Jacob, S
    Luft, D
    Schmülling, RM
    Rett, K
    März, W
    Häring, HU
    Matthaei, S
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (12): : 4795 - 4798
  • [2] Lipoprotein lipase Cys239Trp:: a novel loss of function mutation associated with type I hyperlipoproteinemia (HLP) in a patient with recurrent severe pancreatitis
    Matthaei, S
    Hoffmann, MM
    Luft, D
    Maerz, W
    Schmuelling, RM
    [J]. DIABETES, 1999, 48 : A253 - A253
  • [3] Lipoprotein lipase Cys239→Trp:: A new loss of function mutation associated with type I hyperlipoproteinemia
    Hoffmann, MM
    Matthaei, S
    Wieland, H
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    [J]. ATHEROSCLEROSIS, 1999, 144 : 114 - 114
  • [4] Lipoprotein lipase Val200Phe:: a new loss of function mutation associated with type I hyperlipoproteinemia
    Hoffmann, MM
    Schwentek, A
    Vohl, N
    Von Blanckenburg, P
    Wieland, H
    [J]. ATHEROSCLEROSIS SUPPLEMENTS, 2003, 4 (02) : 236 - 236
  • [5] A NEWLY IDENTIFIED HETEROZYGOUS LIPOPROTEIN-LIPASE GENE MUTATION (CYS(239)-]STOP/TGC(972)-]TGA LPL(OBAMA)) IN A PATIENT WITH PRIMARY TYPE-IV HYPERLIPOPROTEINEMIA
    TAKAGI, A
    IKEDA, Y
    MORI, A
    TSUTSUMI, Z
    OIDA, K
    NAKAI, T
    YAMAMOTO, A
    [J]. JOURNAL OF LIPID RESEARCH, 1994, 35 (11) : 2008 - 2018
  • [6] Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis
    Lun, Yu
    Sun, Xiaofang
    Wang, Ping
    Chi, Jingwei
    Hou, Xu
    Wang, Yangang
    [J]. ONCOTARGET, 2017, 8 (29) : 47741 - 47754
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