Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII

Haemophilia

Volumn 17, Issue 5, 2011, Pages

  Elmahmoudi, H ^a   Wigren, E ^b   Laatiri, A ^c   Jlizi, A ^a   Elgaaied, A ^a   Gouider, E ^d   Lindqvist, Y ^b  

^a Immunology and Human Pathologies   (Tunisia)

^b KAROLINSKA INSTITUTE   (Sweden)

^c FATTOUMA BOURGUIBA UNIVERSITY HOSPITAL   (Tunisia)

^d Hopital Aziza Othmana   (Tunisia)

Author keywords

Circular dichroism; Combined FV and FVIII deficiency; LMAN1; MCFD2; Mutations

Indexed keywords

ASPARAGINE; ASPARTIC ACID;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CASE REPORT; CIRCULAR DICHROISM; CONSANGUINEOUS MARRIAGE; EXON; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; HEMOPHILIA A; HUMAN; MCFD2 GENE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TUNISIA;

AFRICAN CONTINENTAL ANCESTRY GROUP; CIRCULAR DICHROISM; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR V DEFICIENCY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEMOPHILIA A; HUMANS; MUTATION; TUNISIA; VESICULAR TRANSPORT PROTEINS; YOUNG ADULT;

EID: 80051983702     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2011.02529.x     Document Type: Article

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