Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor v and viii deficiency

Tunisie Medicale

Volumn 90, Issue 4, 2012, Pages 343-344

  Hejer, Elmahmoudi ^a   Adnen, Laatiri Med ^b   Asma, Jlizi ^a   Ibtihel, Makhlouf ^b   ben Amel, Elgaaied ^a   Emna, Gouider ^c  

^a FACULTÉ DES SCIENCES DE TUNIS   (Tunisia)

^b UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^c Hopital Aziza Othmana   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 8;

ADULT; AMINO ACID SUBSTITUTION; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CASE REPORT; COMBINED FACTOR V AND VIII DEFICIENCY; CONSANGUINEOUS MARRIAGE; DNA POLYMORPHISM; EXON; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HEMOPHILIA A; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTRON; LETTER; MCDF2 GENE; TUNISIA;

ADULT; CONSANGUINITY; FACTOR V DEFICIENCY; FEMALE; HEMOPHILIA A; HUMANS; MALE; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA; TUNISIA; VESICULAR TRANSPORT PROTEINS; YOUNG ADULT;

EID: 84861171204     PISSN: 00414131     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. Zhang B. Recent developments in the understanding of the combined deficiency of FV and FVIII. Br J Haematol 2009; 145: 15-23.
2. Guy JE, Wigren E, Svard M, et al. New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2. J Mol Biol 2008; 381, 941-55.
3. Segal A, Zivelin A, Rosenberg N, et al. A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia. Blood Coagul Fibrinolysis. 2004; 15:99-102.
4. Abdallah HE, Gouider E, Ben Amor M, et al. Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency. Haemophilia 2010; 16, 801-4.
5. Abdallah HE, Gouider E, Stambouli N et al. Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency. Blood Cells Mol Dis. 2010; 44:120-3.