The Arg703Trp missense mutation in F13A1 is a de novo event

被引:5
作者
Anwar, Rashida [1 ]
Langlois, Sylvie [2 ]
机构
[1] Univ Leeds, St Jamess Univ Hosp, Leeds Inst Mol Med, Leeds, W Yorkshire, England
[2] Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
关键词
FXIII deficiency; de novo mutation; splicing mutation; haplotype; FACTOR-XIII;
D O I
10.1111/j.1365-2141.2009.07700.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:118 / 120
页数:3
相关论文
共 7 条
[1]  
Anwar R, 1998, THROMB HAEMOSTASIS, V79, P1151
[2]   Delayed umbilical bleeding - A presenting feature for factor XIII deficiency: Clinical features, genetics, and management [J].
Anwar, R ;
Minford, A ;
Gallivan, L ;
Trinh, CH ;
Markham, AF .
PEDIATRICS, 2002, 109 (02) :E32
[3]   Factor XIII deficiency [J].
Hsieh, L. ;
Nugent, D. .
HAEMOPHILIA, 2008, 14 (06) :1190-1200
[4]   Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex [J].
Jeffreys, AJ ;
Kauppi, L ;
Neumann, R .
NATURE GENETICS, 2001, 29 (02) :217-222
[5]   Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran [J].
Trinh, Chi H. ;
ElSayed, WalidSh ;
Eshghi, Peyman ;
Miri-Moghaddam, Ebrahim ;
Zadeh-Vakili, Azita ;
Markham, AlexanderF. ;
Anwar, Rashida .
BRITISH JOURNAL OF HAEMATOLOGY, 2008, 140 (05) :581-584
[6]   SNP microarray analysis for genome-wide detection of crossover regions [J].
Wirtenberger, M ;
Hemminki, K ;
Chen, BW ;
Burwinkel, B .
HUMAN GENETICS, 2005, 117 (04) :389-397
[7]   3-DIMENSIONAL STRUCTURE OF A TRANSGLUTAMINASE - HUMAN BLOOD-COAGULATION FACTOR-XIII [J].
YEE, VC ;
PEDERSEN, LC ;
LETRONG, I ;
BISHOP, PD ;
STENKAMP, RE ;
TELLER, DC .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (15) :7296-7300