First report of molecular diagnosis of Tunisian hemophiliacs A: Identification of 8 novel causative mutations

Diagnostic Pathology

Volumn 7, Issue 1, 2012, Pages

  Elmahmoudi, Hejer ^a   Khodjet el khil, Houssein ^a   Wigren, Edvard ^b   Jlizi, Asma ^a   Zahra, Kaouther ^c   Pellechia, Dorothé ^d   Vinciguerra, Christine ^d   Meddeb, Balkis ^c   Elggaaied, Amel Ben A ^a   Gouider, Emna ^c  

^a Laboratory of Genetics Immunology and Human Pathologies   (Tunisia)

^b KAROLINSKA INSTITUTE   (Sweden)

^c Hopital Aziza Othmana   (Tunisia)

^d HOSPICES CIVILS DE LYON   (France)

Author keywords

Hemophilia A; Inhibitors; Intron 1 inversion; Intron 22 inversion; Molecular analysis; Mutations; Tunisia

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ADOLESCENT; ADULT; ARTICLE; BIOLOGY; BLOOD; CHEMICAL STRUCTURE; CHEMISTRY; CHILD; CHROMOSOME INVERSION; EXON; GENE DELETION; GENE EXPRESSION REGULATION; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETICS; HEMOPHILIA A; HUMAN; INTRON; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROTEIN CONFORMATION; SEVERITY OF ILLNESS INDEX; SOUTHERN BLOTTING; STRUCTURE ACTIVITY RELATION; TUNISIA;

ADOLESCENT; ADULT; BLOTTING, SOUTHERN; CHILD; CHILD, PRESCHOOL; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR VIII; GENETIC PREDISPOSITION TO DISEASE; HEMOPHILIA A; HUMANS; INTRONS; MODELS, MOLECULAR; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN CONFORMATION; SEQUENCE DELETION; SEQUENCE INVERSION; SEVERITY OF ILLNESS INDEX; STRUCTURE-ACTIVITY RELATIONSHIP; TUNISIA; YOUNG ADULT;

EID: 84868220535     PISSN: None     EISSN: 17461596     Source Type: Journal    
DOI: 10.1186/1746-1596-7-93     Document Type: Article

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