A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity (vol 92, pg 4462, 1995)

被引：0
作者：
Yang, WS
Nevin, DN
Peng, RL
Brunzell, JD
Deeb, SS
机构：
来源：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1996年 / 93卷 / 01期
关键词：
D O I：
暂无
中图分类号：
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
引用
收藏
页码：524 / 524
页数：1
相关论文
共 14 条
[1]   A MUTATION IN THE PROMOTER OF THE LIPOPROTEIN-LIPASE (LPL) GENE IN A PATIENT WITH FAMILIAL COMBINED HYPERLIPIDEMIA AND LOW LPL ACTIVITY [J].
YANG, WS ;
NEVIN, DN ;
PENG, RL ;
BRUNZELL, JD ;
DEEB, SS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (10) :4462-4466
[2]   THE LPL GENE IN INDIVIDUALS WITH FAMILIAL COMBINED HYPERLIPIDEMIA AND DECREASED LPL ACTIVITY [J].
NEVIN, DN ;
BRUNZELL, JD ;
DEEB, SS .
ARTERIOSCLEROSIS AND THROMBOSIS, 1994, 14 (06) :869-873
[3]   A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency [J].
Takagi, A ;
Ikeda, Y ;
Takeda, E ;
Yamamoto, A .
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2000, 1502 (03) :433-446
[4]   Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp(9)->Asn, Tyr(262)->His) [J].
Rouis, M ;
Lohse, P ;
Dugi, KA ;
Lohse, P ;
Beg, OU ;
Ronan, R ;
Talley, GD ;
Brunzell, JD ;
SantamarinaFojo, S .
JOURNAL OF LIPID RESEARCH, 1996, 37 (03) :651-661
[5]   A NEWLY IDENTIFIED NULL ALLELIC MUTATION IN THE HUMAN LIPOPROTEIN-LIPASE (LPL) GENE OF A COMPOUND HETEROZYGOTE WITH FAMILIAL LPL DEFICIENCY [J].
GOTODA, T ;
YAMADA, N ;
MURASE, T ;
MIYAKE, S ;
MURAKAMI, R ;
KAWAMURA, M ;
KOZAKI, K ;
MORI, N ;
SHIMANO, H ;
SHIMADA, M ;
YAZAKI, Y .
BIOCHIMICA ET BIOPHYSICA ACTA, 1992, 1138 (04) :353-356
[6]   Susceptibility alleles of the hepatic lipase (HL) and lipoprotein lipase (LPL) but not insulin receptor (INSR) are involved in familial combined hyperlipidemia (FCHL) [J].
Gehrisch, S ;
Kostka, H ;
Julius, U ;
Schroeder, HE ;
Jaross, W .
CIRCULATION, 1996, 94 (08) :1584-1584
[7]   Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): A reappraisal by using a resequencing approach [J].
Minicocci, Ilenia ;
Prisco, Cristina ;
Montali, Anna ;
Di Costanzo, Alessia ;
Ceci, Fabrizio ;
Pigna, Giovanni ;
Arca, Marcello .
ATHEROSCLEROSIS, 2015, 242 (02) :618-624
[8]   Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6 [J].
Gilbert, B ;
Rouis, M ;
Griglio, S ;
de Lumley, L ;
Laplaud, PM .
ANNALES DE GENETIQUE, 2001, 44 (01) :25-32
[9]   Severe hypertriglyceridemia with plasma inhibitory factor(s) on lipoprotein lipase activity in a patient with a common Ser447-Ter LPL mutation [J].
Zhu, YJ ;
Bujo, H ;
Takahashi, K ;
Taira, K ;
Kobayashi, J ;
Koshikawa, H ;
Sasaki, Y ;
Kanoh, T ;
Saito, Y .
CLINICA CHIMICA ACTA, 2001, 308 (1-2) :139-146
[10]   Compound heterozygosity for a known (G188E) and novel (W394X) LPL gene mutation causing familial lipoprotein lipase deficiency [J].
Crawford, G ;
Wats, GF ;
Robertson, K ;
Burnett, JR ;
van Bockxmeer, F .
ATHEROSCLEROSIS SUPPLEMENTS, 2004, 5 (01) :74-74
12