Molecular basis of hereditary factor V deficiency in India: Identification of four novel mutations and their genotype-phenotype correlation

被引:5
|
作者
Chapla, Aaron [1 ]
Jayandharan, Giridhara Rao [1 ]
Sumitha, Elayaperumal [1 ]
Devi, Govindanattar Sankari [1 ]
Shenbagapriya, Paneerselvam [2 ]
Nair, Sukesh Chandran [2 ]
Viswabandya, Auro [1 ]
George, Biju [1 ]
Mathews, Vikram [1 ]
Srivastava, Alok [1 ]
机构
[1] Christian Med Coll & Hosp, Dept Haematol, Vellore 632004, Tamil Nadu, India
[2] Christian Med Coll & Hosp, Dept Transfus Med & Immunohaematol, Vellore 632004, Tamil Nadu, India
关键词
FACTOR-X; POLYMORPHISMS; COAGULATION; GENE;
D O I
10.1160/TH10-11-0767
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1120 / 1123
页数:4
相关论文
共 50 条
  • [1] Genotype-phenotype correlation in combined deficiency of factor V and factor VIII
    Zhang, Bin
    Spreafico, Marta
    Zheng, Chunlei
    Yang, Angela
    Platzer, Petra
    Callaghan, Michael U.
    Avci, Zekai
    Ozbek, Namik
    Mahlangu, Johnny
    Haw, Tabitha
    Kaufman, Randal J.
    Marchant, Kandice
    Tuddenham, Edward G. D.
    Seligsohn, Uri
    Peyvandi, Flora
    Ginsburg, David
    BLOOD, 2008, 111 (12) : 5592 - 5600
  • [2] Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea
    Kwon, Min-Jung
    Yoo, Ki-Young
    Lee, Ki-O
    Kim, Sun-Hee
    Kim, Hee-Jin
    BLOOD COAGULATION & FIBRINOLYSIS, 2011, 22 (02) : 102 - 105
  • [3] Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations
    Bayrak-Toydemir, P
    McDonald, J
    Markewitz, B
    Lewin, S
    Miller, F
    Chou, LS
    Gedge, F
    Tang, W
    Coon, H
    Mao, R
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (05) : 463 - 470
  • [4] BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation
    Oz, Ozlem
    Karaca, Meryem
    Atas, Nurgul
    Gonel, Ataman
    Ercan, Mujgan
    JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, 2021, 31 (07): : 780 - 785
  • [5] Genotype-phenotype correlation of hereditary erythrocytosis mutations, a single center experience
    Oliveira, Jennifer L.
    Coon, Lea M.
    Frederick, Lori A.
    Hein, Molly
    Swanson, Kenneth C.
    Savedra, Michelle E.
    Porter, Tavanna R.
    Patnaik, Mrinal M.
    Tefferi, Ayalew
    Pardanani, Animesh
    Grebe, Stefan K.
    Viswanatha, David S.
    Hoyer, James D.
    AMERICAN JOURNAL OF HEMATOLOGY, 2018, 93 (08) : 1029 - 1041
  • [6] Genotype-phenotype correlation in families with mild factor VII deficiency
    Riccardi, F.
    Rivolta, G.
    Martorana, D.
    Di Perna, C.
    Avvantaggiato, E.
    Tagliaferri, A.
    HAEMOPHILIA, 2012, 18 : 187 - 187
  • [7] Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome
    Cano, A.
    Rouzier, C.
    Monnot, S.
    Chabrol, B.
    Conrath, J.
    Lecomte, P.
    Delobel, B.
    Boileau, P.
    Valero, R.
    Procaccio, V.
    Paquis-Flucklinger, V.
    Vialettes, B.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (14) : 1605 - 1612
  • [8] Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency
    Bianchi, Paola
    Fermo, Elisa
    Lezon-Geyda, Kimberly
    van Beers, Eduard J.
    Morton, Holmes D.
    Barcellini, Wilma
    Glader, Bertil
    Chonat, Satheesh
    Ravindranath, Yaddanapudi
    Newburger, Peter E.
    Kollmar, Nina
    Despotovic, Jenny M.
    Verhovsek, Madeleine
    Sharma, Mukta
    Kwiatkowski, Janet L.
    Kuo, Kevin H. M.
    Wlodarski, Marcin W.
    Yaish, Hassan M.
    Holzhauer, Susanne
    Wang, Heng
    Kunz, Joachim
    Addonizio, Kathryn
    Al-Sayegh, Hasan
    London, Wendy B.
    Andres, Oliver
    van Wijk, Richard
    Gallagher, Patrick G.
    Grace, Rachael F. F.
    AMERICAN JOURNAL OF HEMATOLOGY, 2020, 95 (05) : 472 - 482
  • [9] Molecular analysis of the genotype-phenotype relationship in factor VII deficiency
    Millar, DS
    Kemball-Cook, G
    McVey, JH
    Tuddenham, EGD
    Mumford, AD
    Attock, GB
    Reverter, JC
    Lanir, N
    Parapia, LA
    Reynaud, J
    Meili, E
    von Felton, A
    Martinowitz, U
    Prangnell, DR
    Krawczak, M
    Cooper, DN
    HUMAN GENETICS, 2000, 107 (04) : 327 - 342
  • [10] Molecular analysis of the genotype-phenotype relationship in factor X deficiency
    D.S. Millar
    L. Elliston
    P. Deex
    M. Krawczak
    A.I. Wacey
    J. Reynaud
    H.K. Nieuwenhuis
    P. Bolton-Maggs
    P.M. Mannucci
    J.C. Reverter
    P. Cachia
    K.J. Pasi
    D.M. Layton
    D.N. Cooper
    Human Genetics, 2000, 106 (2) : 249 - 257