MOLECULAR CHARACTERIZATION OF NOVEL PROTEIN C MUTATIONS (P.ASP77GLY, P.ALA163VAL AND P.ALA163GLU) CAUSING PROTEIN C DEFICIENCY

被引：0
|
作者：
Koviccs, K. Bernadett [1 ]
Pataki, I. [2 ]
Bicrdos, H. [3 ]
Pfliegler, G. [4 ]
Komicromi, I. [5 ]
Fekete, A. [1 ]
Haramura, G. [1 ]
Idicny, R. [3 ]
Balla, G.
Muszbek, L. [1 ]
Bereczky, Z. [1 ]
机构：
[1] Univ Debrecen, Clin Res Ctr, Debrecen, Hungary
[2] Univ Debrecen, Dept Pediat, Debrecen, Hungary
[3] Univ Debrecen, Dept Prevent Med, Debrecen, Hungary
[4] Univ Debrecen, Inst Internal Med, Debrecen, Hungary
[5] Hungarian Acad Sci, Vasc Biol Thrombosis & Hemostasis Res Grp, H-1051 Budapest, Hungary
来源：
THROMBOSIS RESEARCH | 2014年 / 133卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
C0337
引用
收藏
页码：S11 / S11
页数：1
相关论文
共 13 条
  • [1] Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency
    Kovacs, Kitti B.
    Pataki, Istvan
    Bardos, Helga
    Fekete, Attila
    Pfliegler, Gyoergy
    Haramura, Gizella
    Gindele, Reka
    Komaromi, Istvan
    Balla, Gyorgy
    Adany, Roza
    Muszbek, Laszlo
    Bereczky, Zsuzsanna
    [J]. THROMBOSIS RESEARCH, 2015, 135 (04) : 718 - 726
  • [2] MOLECULAR MECHANISM FOR FAMILIAL PROTEIN-C DEFICIENCY AND THROMBOSIS IN PROTEIN C-VERMONT (GLU(20)-]ALA AND VAL(34)-]MET)
    LU, D
    BOVILL, EG
    LONG, GL
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1994, 269 (46) : 29032 - 29038
  • [3] Natural History of Dilated Cardiomyopathy Due to c.77T>C (p.Val26Ala) in Emerin Protein
    Baez-Ferrer, Nestor
    Diaz-Flores-Estevez, Felicitas
    Perez-Cejas, Antonia
    Avanzas, Pablo
    Lorca, Rebeca
    Abreu-Gonzalez, Pedro
    Dominguez-Rodriguez, Alberto
    [J]. JOURNAL OF CLINICAL MEDICINE, 2024, 13 (03)
  • [4] Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations
    Liu, Hui
    Wang, Hua-Fang
    Tang, Liang
    Yang, Yan
    Wang, Qing-Yun
    Zeng, Wei
    Wu, Ying-Ying
    Cheng, Zhi-Peng
    Hu, Bei
    Guo, Tao
    Hu, Yu
    [J]. GENE, 2015, 563 (01) : 35 - 40
  • [5] PROS1 variant c.1574C>T p.Ala525Val causes portal vein thrombosis with protein S deficiency
    Ye, Xiaoying
    Mi, Xiaoxiao
    Sun, Jiawei
    ShenTu, Yiling
    Fei, Yingming
    Tang, Dong
    Ye, Xiaoping
    Ma, Xiaojie
    Shi, Junping
    Chen, Gongying
    Gong, Ling
    [J]. CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY, 2023, 47 (06)
  • [6] ASSOCIATION OF 2 NOVEL MUTATIONS IN THE GLA-DOMAIN (GLU20 TO ALA AND VAL34 TO MET) WITH SYMPTOMATIC TYPE-II PROTEIN-C DEFICIENCY
    BOVILL, EG
    TOMCZAK, J
    GRANT, B
    PILIMER, E
    RAINVILLE, I
    LONG, GL
    [J]. THROMBOSIS AND HAEMOSTASIS, 1991, 65 (06) : 647 - 647
  • [7] Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia
    Tsai, Anne Chun-Hui
    Lin, Hsin-Ti
    Chou, Maxwell
    Bolen, Jessica
    Zimmerman, Chelsea
    DeMarzo, Danielle
    Enchautegui-Colon, Yazmin
    [J]. MOLECULAR GENETICS AND METABOLISM REPORTS, 2022, 31
  • [8] Mutation in Z-disk associated protein filamin C (p.Ala2430Val) causes myofibrillar hypertrophic cardiomyopathy
    Schaenzer, A.
    Schuhmann, E.
    Zengeler, D.
    Schuld, J.
    Gulatz, L.
    Maroli, G.
    Graef, S.
    Ahting, U.
    Hahn, A.
    Nemeth, A.
    Fuerst, D.
    Rupp, S.
    van der Ven, P.
    [J]. NEUROMUSCULAR DISORDERS, 2019, 29 : S64 - S64
  • [9] Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly)
    Gallardo, Christian Aledia
    Wong, Lester Jun Long
    Sum, Christina Lai Lin
    Goh, Liuh Ling
    Ong, Kiat Hoe
    [J]. JOURNAL OF HEMATOLOGY, 2022, 11 (01) : 29 - 33
  • [10] A Novel Missense Mutation in FGG (c.944C>A) Encodes for An Amino Acid Change (p.Ala315Asp) in the Gamma Chain of Fibrinogen Causing Hypofibrinogenemia and a Thrombotic Phenotype
    Bornikova, Larissa
    Brodsky, Gary
    Neeves, Keith B.
    Marchi, Rita
    Backos, Donald S.
    Reigan, Philip
    Wolberg, Alisa S.
    Manco-Johnson, Marilyn J.
    Di Paola, Jorge A.
    [J]. BLOOD, 2011, 118 (21) : 391 - 391
12