Coagulation factor V gene analysis in five Indian patients: Identification of three novel small deletions

Haematologica

Volumn 91, Issue 12, 2006, Pages 1724-1726

  Asselta, Rosanna ^a   Dall'Osso, Claudia ^a   Duga, Stefano ^a   Spreafico, Marta ^a,b   Saxena, Renu ^c   Tenchini, Maria Luisa ^a,d  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^d Department of Biology and Genetics for Medical Sciences ^*  (Italy)

Author keywords

Coagulation factor V; Factor V deficiency; Gene analysis; Mutation

Indexed keywords

BLOOD CLOTTING FACTOR 7;

ARTICLE; BLOOD CLOTTING FACTOR 5 DEFICIENCY; DEMOGRAPHY; GENE DELETION; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PREVALENCE;

ADOLESCENT; ADULT; FACTOR V; GENE DELETION; HAPLOTYPES; HUMANS; INDIA; MALE;

EID: 33845939313     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Mann KG, Kalafatis M. Factor V: a combination of Dr Jekyll and Mr Hyde. Blood 2003;101:20-30.
2. Stormorken H. The discovery of factor V: a tricky clotting factor. J Thromb Haemost 2003;1:206-13.
3. UCSC Genome Browser, http://genome.ucsc.edu/
4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
5. Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004;104:1243-52.
6. Lak M, Sharifian R, Peyvandi F, Mannucci PM. Symptoms of inherited factor V deficiency in 35 Iranian patients. Br J Haematol 1998;103:1067-9.
7. Asselta R, Tenchini ML, Duga S. Inherited defects of coagulation factor V: the hemorrnagic side. J Thromb Haemost 2006;4:26-34.
8. Kling SJ, Griffee M, Flanders MM, Rodgers GM. Factor V deficiency caused by a novel missense mutation, Ile417Thr, in the A2 domain. J Thromb Haemost 2006;4:481-3.
9. Yamakage N, Ikejiri M, Okumura K, Takagi A, Murate T, Matushita T, et al. A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene. Haemophilia 2006;12:172-8.
10. van Wijk R, Montefusco MC, Duga S, Asselta R, van Solinge W, Malcovati M, et al. Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency. Br J Haematol 2001;114:871-4.
11. Database of mutations and polymorphisms in the Factor V gene, http://wwrw.lumc.nl/4010/research/Factor_V_gene.html
12. Mingozzi F, Legnani C, Lunghi B, Scanavini D, Castoldi E, Palareti G, et al. A FV multiallelic marker detects genetic components of APC resistance contributing to venous thromboembolism in FV Leiden carriers. Thromb Haemost 2003;89:983-9.