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Titolo:
Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A
Autore:
Theophilus, BDM; Enayat, MS; Williams, MD; Hill, FGH;
Indirizzi:
Birmingham Childrens Hosp NHS Trust, Dept Haematol, Birmingham B4 6NH, W Midlands, England Birmingham Childrens Hosp NHS Trust Birmingham W MidlandsEngland B4 6NH
Titolo Testata:
HAEMOPHILIA
fascicolo: 4, volume: 7, anno: 2001,
pagine: 381 - 391
SICI:
1351-8216(200107)7:4<381:SATOMI>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEMOPHILIA-A PATIENTS; COAGULATION-FACTOR-VIII; VON-WILLEBRAND-FACTOR; MESSENGER-RNA; FACTOR-V; VARIANT PATTERN; CODING REGION; C2 DOMAIN; DEFICIENCY; BINDING;
Keywords:
chemical mismatch; FVIII; haemophilia A; molecular genetics; mutation detection; RT-PCR;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
63
Recensione:
Indirizzi per estratti:
Indirizzo: Theophilus, BDM Birmingham Childrens Hosp NHS Trust, Dept Haematol, Steelhouse Lane, Birmingham B4 6NH, W Midlands, England Birmingham Childrens HospNHS Trust Steelhouse Lane Birmingham W Midlands England B4 6NH
Citazione:
B.D.M. Theophilus et al., "Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A", HAEMOPHILIA, 7(4), 2001, pp. 381-391

Abstract

Haemophilia A is an X-linked bleeding disorder caused by reduced or absentFVIII (FVIII) protein caused by mutations in the FVIII gene. We have used Southern blotting and chemical mismatch analysis (CMA) to identify the mutations causing haemophilia A in 59 local or referred patients or carriers ofhaemophilia A. Southern blot analysis of 87 families with FWIII: C < 5% identified 31 as positive for the intron 22 inversion. Analysis of 19 of the inversion-negative families and a further nine families with mild or moderate haemophilia A by CMA resulted in the identification of a heterogeneous spectrum of mutations in the FVIII gene comprising 21 single base-pair substitutions and nine deletions. Seventeen of the base-pair substitutions are missense, two nonsense, and two are splice-site mutations. Two patients werefound to have compound mutations with two mutations identified on a singleX chromosome. Six of the point mutations and six of the deletions have notbeen reported previously in the haemophilia A mutation database. Unusually, a missense mutation, as well as deletion and splice-site mutations, was found to be associated with exon-skipping events.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/04/20 alle ore 12:39:45