RSS-Feed abonnieren
Bitte kopieren Sie die angezeigte URL und fügen sie dann in Ihren RSS-Reader ein.
https://www.thieme-connect.de/rss/thieme/de/10.1055-s-00035024.xml
Thromb Haemost 1999; 82(04): 1373-1375
DOI: 10.1055/s-0037-1614402
DOI: 10.1055/s-0037-1614402
Letters to the Editor
Null Alleles Are not a Common Cause of Type 1 von Willebrand Disease in the British Population
Weitere Informationen
Publikationsverlauf
Received
23. März 1999
Accepted after major revision
27. Mai 1999
Publikationsdatum:
08. Dezember 2017 (online)
-
References
- 1 Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand’s disease. Blood 1987; 69: 454-9.
- 2 Eikenboom JCJ, Reitsma PH, Briët E. The inheritance and molecular genetics of von Willebrand’s disease. Haemophilia 1995; 1: 77-90.
- 3 Nichols WC, Lyons SE, Harrison JS, Cody RL, Ginsburg D. Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: Detection by exonic PCR-restriction fragment length polymorphism analysis. Proc Natl Acad Sci USA 1991; 88: 3857-61.
- 4 Eikenboom JCJ, Ploos van Amstel HK, Reitsma P, Briët E. Mutations in severe, type III von Willebrand’s disease in the Dutch population: Candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA. Thromb Haemost 1992; 68: 448-54.
- 5 Eikenboom JCJ, Castaman G, Vos HL, Bertina RM, Rodeghiero F. Characterisation of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb Haemost 1998; 79: 709-17.
- 6 Nesbitt IM, Goodeve AC, Guilliatt AM, Makris M, Preston FE, Peake IR. Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques. Thromb Haemost 1996; 75: 959-64.
- 7 Guidlines for the blood transfusion services in the United Kingdom. National Blood Transfusion Services. 1996
- 8 Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost 1994; 71: 520-5.
- 9 Eikenboom JCJ, Reitsma PH, Peerlinck KMJ, Briët E. Recessive inheritance of von Willebrand’s disease type 1. Lancet 1993; 341: 982-6.
- 10 Zhang ZP, Lindstedt M, Falk G, Blombäck M, Egberg N, Anvret M. Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand’s disease type III and type I. Am J Hum Genet 1992; 51: 850-8.
- 11 Bonthron D, Orr EC, Mitsock LM, Ginsburg D, Handin RI, Orkin SH. Nucleotide sequence of pre-pro-von Willebrand factor cDNA. Nuc Acids Res 1986; 14: 7125-7.
- 12 Nesbitt IM, Hampton KK, Preston FE, Peake IR, Goodeve AC. A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations. Thromb Haemost (in press).
- 13 Peake IR, Liddell MB, Moodie P, Standen G, Mancuso DJ, Tuley EA, Westfield LA, Sorace JM, Sadler JE, Verweij CL, Bloom AL. Severe type III von Willebrand’s disease caused by deletion of exon 42 of the von Willebrand factor gene: Family studies that identify carriers of the condition and a compound heterozygous individual. Blood 1990; 75: 654-61.
- 14 Schneppenheim R, Krey S, Bergmann F, Bock D, Budde U, Lange M, Linde R, Mittler U, Meili E, Mertes G, Olek K, Plendl H, Simeoni E. Genetic heterogeneity of severe von Willebrand disease type III in the German population. Hum Genet 1994; 94: 640-52.
- 15 Cooper DN, Krawczak M. Human gene mutation. Oxford: BIOS Scientific Publishers Limited; 1994
- 16 Mohlke KL, Nichols WC, Rehemtulla A, Kaufman RJ, Fagerström HM, Ritvanen KLA, Kekomäki R, Ginsburg D. A common frameshift mutation in von Willebrand factor does not alter mRNA stability but interferes with normal propeptide processing. Br J Haematol 1996; 95: 184-91.
- 17 Zhang ZP, Blombäck M, Nyman D, Anvret M. Mutations of von Willebrand factor gene in families with von Willebrand disease in the Åland Isles. Proc Natl Acad Sci USA 1993; 90: 7937-40.
- 18 Mazurier C, Meyer D. Molecular basis of von Willebrand disease. In: Clinical Haematology International Practice and Research. Lee CA. ed. W. B. Saunders; 1996. 9 229-41.
- 19 Gill JC, Endres-Brooks J, Bauer PJ, Marks Jr WJ, Montgomery RR. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 1987; 69: 1691-5.