The Arg703Trp missense mutation in F13A1 is a de novo event

British Journal of Haematology

Volumn 146, Issue 1, 2009, Pages 118-120

  Anwar, Rashida ^a   Langlois, Sylvie ^b  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

De novo mutation; FXIII deficiency; Haplotype; Splicing mutation

Indexed keywords

ARGININE; BLOOD CLOTTING FACTOR 13A; BLOOD CLOTTING FACTOR 13B; POLYPEPTIDE; PROTEIN F13A1; UNCLASSIFIED DRUG;

ADOLESCENT; BLOOD CLOTTING FACTOR 13 DEFICIENCY; BLOOD SAMPLING; CASE REPORT; DNA ISOLATION; HUMAN; LETTER; MALE; MISSENSE MUTATION; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

CHROMOSOMES, HUMAN, PAIR 6; DNA MUTATIONAL ANALYSIS; FACTOR XIII DEFICIENCY; HAPLOTYPES; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 66949135748     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2009.07700.x     Document Type: Letter

References (7)

1. Anwar, R., Miloszewski, K.J.A. Markham, A.F. (1998) New splicing mutations in the human factor XIIIA gene, each producing multiple mutant transcripts of varying abundance. Thrombosis and Haemostasis, 79, 1151 1156. (Pubitemid 28297163)
2. Anwar, R., Minford, A., Gallivan, L., Trinh, C.H. Markham, A.F. (2002) Delayed umbilical bleeding - a presenting feature for factor XIII deficiency: clinical features, genetics, and management. Pediatrics, 109, art. no. e32.
3. Hsieh, L. Nugent, D. (2008) Factor XIII deficiency. Haemophilia, 14, 1190 1200.
4. Jeffreys, A.J., Kauppi, L. Neumann, R. (2001) Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nature Genetics, 29, 217 222. (Pubitemid 32952662)
5. Trinh, C.H., ElSayed, W., Eshghi, P., Miri-Moghaddam, E., Zadeh-Vakili, A., Markham, A. Anwar, R. (2008) Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran. British Journal of Haematology, 140, 581 584. (Pubitemid 351232852)
6. Wirtenberger, M., Hemminki, K., Chen, B.W. Burwinkel, B. (2005) SNP microarray analysis for genome-wide detection of crossover regions. Human Genetics, 117, 389 397. (Pubitemid 41194566)
7. Yee, V.C., Pedersen, L.C., Letrong, I., Bishop, P.D., Stenkamp, R.E. Teller, D.C. (1994) Three-dimensional structure of a transglutaminase: human blood coagulation factor XIII. Proceedings of the National Academy of Sciences of the United States of America, 91, 7296 7300. (Pubitemid 24226850)