Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease

Annals of Hematology

Volumn 80, Issue 7, 2001, Pages 381-383

  Casana P ^a   Martinez F ^a   Haya, S ^a   Espinos C ^a   Aznar, J ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

Mutation detection; Type 1 von Willebrand's disease; Von Willebrand's disease

Indexed keywords

AMINO ACID; VON WILLEBRAND FACTOR;

ALLELE; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY; GENE MUTATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; VON WILLEBRAND DISEASE;

ALLELES; FEMALE; GENES, DOMINANT; HUMANS; MALE; MUTATION; PEDIGREE; REFERENCE VALUES; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 0034910490     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002770100307     Document Type: Article

References (12)

1. The problem of diagnosing von Willebrand's disease
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3. Practical application of three polymorphic microsatellites in intron 40 of the human von Willebrand factor gene
4. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor
5. Diagnosis and management of von Willebrand disease
6. Diagnosis of von Willebrand disease
7. Mutations in von Willebrand factor multimerization domains are not a common cause of classical type 1 von Willebrand disease
8. Strategies for multilocus linkage analysis in humans
9. Structure of the gene for human von Willebrand factor
10. Human von Willebrand factor gene and pseudogene: Structural analysis and differentiation by polymerase chain reaction
11. Dinucleotide repeat polymorphism in the promoter region of the human von Willebrand factor gene (VWF gene)