Large FVIII gene deletion confers very high risk of inhibitor development in three related severe haemophiliacs

Haemophilia

Volumn 8, Issue 1, 2002, Pages 17-21

  Salviato, R ^a   Belvini, D ^a   Are, A ^a   Radossi, P ^a   Tagariello, G ^a,b  

^a Castelfranco Veneto Hospital   (Italy)

^b Ospedale 18   (Italy)

Author keywords

Genetic counselling; Haemophilia; Inhibitors; Mutation analysis

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 INHIBITOR; ALLOANTIBODY;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL OBSERVATION; CONFORMATION; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FEMALE; GEL ELECTROPHORESIS; GENE DELETION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC SCREENING; HEMOPHILIA A; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; TITRIMETRY; BLOOD; CHILD; FAMILY HEALTH; GENETICS; IMMUNOLOGY; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE; RISK FACTOR;

ADULT; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR VIII; FAMILY HEALTH; GENETIC SCREENING; HEMOPHILIA A; HUMANS; ISOANTIBODIES; MALE; MIDDLE AGED; PEDIGREE; RISK FACTORS; SEQUENCE DELETION;

EID: 0036210958     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2516.2002.00578.x     Document Type: Article

References (17)

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