Characterization of the genetic basis of FXI deficiency in two Turkish patients

Haemophilia

Volumn 16, Issue 3, 2010, Pages 564-566

  Berber, E ^a   Rimoldi, V ^b   Usluer, S ^a   Aksu, S ^c   Pekcelen, Y ^d   Caglayan S H ^a   Duga, S ^b  

^a BOGAZICI UNIVERSITY   (Turkey)

^b UNIVERSITY OF MILAN   (Italy)

^c HACETTEPE UNIVERSITY   (Turkey)

^d ISTANBUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 11 DEFICIENCY; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MISSENSE MUTATION; NOTE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; TURKEY (REPUBLIC);

AMINO ACIDS; DNA MUTATIONAL ANALYSIS; ENZYME-LINKED IMMUNOSORBENT ASSAY; FACTOR XI DEFICIENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; PEDIGREE; TURKEY;

EID: 77953583344     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2009.02152.x     Document Type: Note

References (5)

1. Duga S, Salomon O. Factor XI Deficiency. Semin Thromb Hemost 2009, 35:416-25.
2. Iijima K, Udagawa A, Kawasaki H, Murakami F, Shimomura T, Ikawa S. A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain. Br J Haematol 2000, 111:556-8.
3. Fard-Esfahani P, Lari GR, Ravanbod S. Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. Haemophilia 2008, 14:91-5.
4. O'Connell NM, Saunders RE, Lee CA, Perry DJ. Perkins SJ Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling. J Thromb Haemost 2005, 3:127-38.
5. Zadra G, Asselta R, Malcovati M. Molecular genetics analysis of severe coagulation factor XI deficiency in six Italian patients. Haematologica 2004, 89:1332-40.