DEFICIENCY OF LECITHIN, CHOLESTEROL ACYLTRANSFERASE DUE TO COMPOUND HETEROZYGOSITY OF 2 NOVEL MUTATIONS (GLY33ARG AND 30 BP INS) IN THE LCAT GENE

被引：0
|
作者：
WIEBUSCH, H
CULLEN, P
OWEN, JS
COLLINS, D
SHARP, PS
FUNKE, H
ASSMANN, G
机构：
[1] UNIV MUNSTER, INST ARTERIOSKLEROSEFORSCH, D-48149 MUNSTER, GERMANY
[2] UNIV LONDON, ROYAL FREE HOSP, SCH MED, DEPT MED, LONDON NW3 2PF, ENGLAND
[3] NORTHWICK PK HOSP & CLIN RES CTR, DEPT CLIN CHEM, HARROW HA1 3UJ, MIDDX, ENGLAND
[4] NORTHWICK PK HOSP & CLIN RES CTR, DEPT ENDOCRINOL, HARROW HA1 3UJ, MIDDX, ENGLAND
来源：
HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 01期
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
引用
收藏
页码：143 / 145
页数：3
相关论文
共 25 条
  • [1] Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene
    Owen, JS
    Wiebusch, H
    Cullen, P
    Watts, GF
    Lima, VLM
    Funke, H
    Assmann, G
    HUMAN MUTATION, 1996, 8 (01) : 79 - 82
  • [2] 2 NOVEL POINT MUTATIONS IN THE LECITHIN-CHOLESTEROL ACYLTRANSFERASE (LCAT) GENE RESULTING IN LCAT DEFICIENCY - LCAT (G(873) DELETION) AND LCAT (GLY(344)-]SER)
    MORIYAMA, K
    SASAKI, J
    ARAKAWA, F
    TAKAMI, N
    MAEDA, E
    MATSUNAGA, A
    TAKADA, Y
    MIDORIKAWA, K
    YANASE, T
    YOSHINO, G
    MARCOVINA, SM
    ALBERS, JJ
    ARAKAWA, K
    JOURNAL OF LIPID RESEARCH, 1995, 36 (11) : 2329 - 2343
  • [3] Two novel mutations of the lecithin:cholesterol acyltransferase (LCAT) gene causing familial LCAT deficiency (FLD):: Section 2
    Rolleri, M
    Cantafora, A
    Franceschini, G
    Calabresi, L
    Boscutti, G
    Mioni, R
    Pizzolitto, S
    Bertolini, S
    ATHEROSCLEROSIS, 1999, 145 : S4 - S4
  • [4] Catalytically inactive lecithin: Cholesterol acyltransferase (LCAT) caused by a Gly 30 to Ser mutation in a family with LCAT deficiency
    Yang, XP
    Inazu, A
    Honjo, A
    Koizumi, I
    Kajinami, K
    Koizumi, J
    Marcovina, SM
    Albers, JJ
    Mabuchi, H
    JOURNAL OF LIPID RESEARCH, 1997, 38 (03) : 585 - 591
  • [5] Two novel mutations of the lecithin:cholesterol acyltransferase (LCAT) gene causing familial LCAT deficiency (FLD):: Section 1
    Rolleri, M
    Cantafora, A
    Franceschini, G
    Calabresi, L
    Boscutti, G
    Mioni, R
    Pizzolitto, S
    Bertolini, S
    ATHEROSCLEROSIS, 1999, 145 : S4 - S4
  • [6] Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype
    Park, Cheol Whee
    Lim, Mi-Hyun
    Youn, Dong-Ye
    Jung, Seung Eun
    Chung, Sungjin
    Ahn, Young Soo
    Chang, Yoon Sik
    Lee, Jeong-Hwa
    ATHEROSCLEROSIS, 2009, 206 (02) : 346 - 348
  • [7] Two novel variants in the lecithin:cholesterol acyltransferase gene resulted in classic LCAT deficiency
    Prlic, Margareta Fistrek
    Coric, Marijana
    Calabresi, Laura
    Pavanello, Chiara
    Mosca, Lorena
    Cavallari, Ugo
    Brinar, Ivana Vukovic
    Karanovic, Sandra
    Laganovic, Mario
    Jelakovic, Bojan
    ATHEROSCLEROSIS PLUS, 2022, 49 : 28 - 31
  • [8] Familial lecithin: Cholesterol acyltransferase deficiency: Molecular analysis of a compound heterozygote: LCAT (Arg(147)->Trp) and LCAT (Tyr(171)->Stop)
    Guerin, M
    Dachet, C
    Goulinet, S
    Chevet, D
    Dolphin, PJ
    Chapman, MJ
    Rouis, M
    ATHEROSCLEROSIS, 1997, 131 (01) : 85 - 95
  • [9] Familial lecithin: Cholesterol acyltransferase deficiency: Molecular analysis of a compound heterozygote: LCAT (Arg(147)->Trp) and LCAT (Tyr(171)->Stop)
    Guerin, M
    Dachet, C
    Goulinet, S
    Chevet, D
    Dolphin, PJ
    Chapman, MJ
    Rouis, M
    ATHEROSCLEROSIS, 1997, 130 : 81 - 81
  • [10] A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency
    Bender, Bernhard U.
    Quaschning, Thomas
    Neumann, Hartmut P. H.
    Schmidt, Dieter
    Kraemer-Guth, Annette
    CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2007, 45 (04) : 483 - 486
123