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Titolo:
Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology
Autore:
Mazurier, C; Goudemand, J; Hilbert, L; Caron, C; Fressinaud, E; Meyer, D;
Indirizzi:
LAb Francais Fractionnement & Biotechnol, Analyt Dept, Lille, France LAb Francais Fractionnement & Biotechnol Lille France pt, Lille, France Univ Lille 2, Dept Haematol, F-59800 Lille, France Univ Lille 2 Lille France F-59800 , Dept Haematol, F-59800 Lille, France Ctr Hosp Reg & Univ Lille, Haematol Lab, Lille, France Ctr Hosp Reg & UnivLille Lille France lle, Haematol Lab, Lille, France Hop Bicetre, INSERM, U143, Le Kremlin Bicetre, France Hop Bicetre Le Kremlin Bicetre France U143, Le Kremlin Bicetre, France
Titolo Testata:
BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
fascicolo: 2, volume: 14, anno: 2001,
pagine: 337 - 347
SICI:
1521-6926(200106)14:2<337:T2VWDC>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
FACTOR-VIII-BINDING; VONWILLEBRAND-FACTOR GENE; HEMOPHILIA-A; COMPOUND HETEROZYGOSITY; ARG91GLN SUBSTITUTION; RECESSIVE INHERITANCE; DEFECTIVE EXPRESSION; NORMANDY VARIANT; ABNORMAL BINDING; MESSENGER-RNA;
Keywords:
type 2N von Willebrand disease; factor VIII binding; von Willebrand factor;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
47
Recensione:
Indirizzi per estratti:
Indirizzo: Mazurier, C LAb Francais Fractionnement & Biotechnol, Analyt Dept, Lille, France LAb Francais Fractionnement & Biotechnol Lille France rance
Citazione:
C. Mazurier et al., "Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology", BEST P R C, 14(2), 2001, pp. 337-347

Abstract

Type 2N von Willebrand disease encompasses all patients with factor VIII deficiency caused by a markedly decreased affinity of von Willebrand factor for factor VIII. It is recessively inherited and clinically similar to mildhaemophilia. The differential biological diagnosis is of major importance for providing the optimal treatment and relevant genetic counselling. This accurate diagnosis is based on an evaluation of the factor V111-binding capacity of plasma von Willebrand factor. Furthermore, molecular biology techniques allow the identification of missense mutations in the von Willebrand factor gene. All of these induce the substitution of amino acid residues located in the N terminal part of the mature von Willebrand factor molecule, which contains the factor VIII binding site. Most of them induce a classical type 2N von Willebrand disease phenotype with factor VIII deficiency but a normal level and multimeric pattern of von Willebrand factor.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/04/20 alle ore 08:05:15