Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: Study of 103 families - 15 new mutations

Haemophilia

Volumn 18, Issue 1, 2012, Pages 129-138

  Silva Pinto, C ^a   Fidalgo, T ^a   Salvado, R ^a   Marques, D ^a   Goncalves E ^a   Martinho, P ^a   Markoff, A ^b   Martins, N ^a   Leticia Ribeiro M ^a  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Carrier studies; F8; Factor VIII inhibitor; Haemophilia A; Molecular modelling; Phenotype

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 INHIBITOR; BLOOD CLOTTING FACTOR 8C;

ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY STRESS; FEMALE; FOLLOW UP; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEMOPHILIA A; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MUTATION; PHENOTYPE; PORTUGAL; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN STRUCTURE; RNA SPLICING;

ALGORITHMS; BLOOD COAGULATION FACTOR INHIBITORS; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR VIII; FEMALE; GENOTYPE; HEMOPHILIA A; HUMANS; INTRONS; MALE; MUTATION, MISSENSE; PHENOTYPE; PORTUGAL;

EID: 84355163077     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2011.02570.x     Document Type: Article

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