Literature DB >> 7909449

Seeming homozygosity in type-IIB von Willebrand's disease due to a polymorphism within the sequence of a commonly used primer.

J C Eikenboom1, P H Reitsma, E Briët.   

Abstract

In an isolated type-IIB von Willebrand's disease patient we detected a Val553-->Met substitution. The patient seemed to be homozygous, although this substitution was absent in both asymptomatic parents. Since two identical de novo mutations are highly unlikely, we tested for unsuccessful amplification of one allele. We found a novel polymorphism in the complementary sequence of a primer widely used for selective amplification of the von Willebrand factor gene.

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Year:  1994        PMID： 7909449     DOI： 10.1007/bf01727418

Source DB:  PubMed          Journal:  Ann Hematol        ISSN： 0939-5555            Impact factor:   3.673


  9 in total

1.  Trinucleotide repeat polymorphism at the human intestinal fatty acid binding protein gene (FABP2).

Authors:  M H Polymeropoulos; D S Rath; H Xiao; C R Merril
Journal:  Nucleic Acids Res       Date:  1990-12-11       Impact factor: 16.971

2.  Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.

Authors:  E W Murray; A R Giles; D Lillicrap
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

3.  Dinucleotide repeat polymorphism at the D4S174 locus.

Authors:  J L Weber; A E Kwitek; P E May; A M Killary
Journal:  Nucleic Acids Res       Date:  1990-08-11       Impact factor: 16.971

4.  Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.

Authors:  A M Randi; I Rabinowitz; D J Mancuso; P M Mannucci; J E Sadler
Journal:  J Clin Invest       Date:  1991-04       Impact factor: 14.808

5.  Structure of the gene for human von Willebrand factor.

Authors:  D J Mancuso; E A Tuley; L A Westfield; N K Worrall; B B Shelton-Inloes; J M Sorace; Y G Alevy; J E Sadler
Journal:  J Biol Chem       Date:  1989-11-25       Impact factor: 5.157

Review 6.  von Willebrand factor and von Willebrand disease.

Authors:  Z M Ruggeri; T S Zimmerman
Journal:  Blood       Date:  1987-10       Impact factor: 22.113

Review 7.  von Willebrand disease: a database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

Authors:  D Ginsburg; J E Sadler
Journal:  Thromb Haemost       Date:  1993-02-01       Impact factor: 5.249

8.  Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction.

Authors:  D J Mancuso; E A Tuley; L A Westfield; T L Lester-Mancuso; M M Le Beau; J M Sorace; J E Sadler
Journal:  Biochemistry       Date:  1991-01-08       Impact factor: 3.162

9.  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.

Authors:  J C Eikenboom; H K Ploos van Amstel; P H Reitsma; E Briët
Journal:  Thromb Haemost       Date:  1992-10-05       Impact factor: 5.249
  9 in total
  1 in total

1.  Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort.

Authors:  Daniel J Hampshire; George J Burghel; Jenny Goudemand; Laura C S Bouvet; Jeroen C J Eikenboom; Reinhard Schneppenheim; Ulrich Budde; Ian R Peake; Anne C Goodeve
Journal:  Haematologica       Date:  2010-09-17       Impact factor: 9.941
  1 in total

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