A standard nomenclature for von Willebrand factor gene mutations and polymorphisms

Best Practice and Research: Clinical Haematology

Volumn 14, Issue 2, 2001, Pages 235-240

  Goodeve, Anne ^a   Peake, Ian ^a  

^a ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

Author keywords

Mutation; Polymorphism; Standard nomenclature; von Willebrand disease; von Willebrand factor

Indexed keywords

NUCLEIC ACID; NUCLEOTIDE; VON WILLEBRAND FACTOR;

ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DNA POLYMORPHISM; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HEMOSTASIS; HUMAN; MEDICAL SOCIETY; NOMENCLATURE; PRIORITY JOURNAL; SCIENTIFIC LITERATURE; SCREENING TEST; STANDARDIZATION; THROMBOSIS; VON WILLEBRAND DISEASE;

EID: 0034923894     PISSN: 15216926     EISSN: None     Source Type: Journal    
DOI: 10.1053/beha.2001.0131     Document Type: Article

References (11)

1. Nucleotide-sequence of pre-pro-von Willebrand factor cDNA
2. A database of polymorphisms in the von Willebrand-factor gene and pseudogene
3. A revised classification of von Willebrand disease
4. A suggested nomenclature for designating mutations
5. Update on nomenclature for human gene mutations
6. Recommendations for a nomenclature system for human gene mutations
7. Structure of the gene for human von Willebrand-factor
8. Human von Willebrand-factor gene and pseudogene - Structural analysis and differentiation by polymerase chain-reaction
9. Molecular mechanisms and classification of von Willebrand disease
10. Nucleotide-sequence of the gene for human factor-IX (antihemophilic factor-B)
11. What is a polymorphism?