A large deletion identified in a Swedish family with type 1 VWD

Thrombosis and Haemostasis

Volumn 105, Issue 4, 2011, Pages 733-734

  Johansson, Anna M ^a   Lanke, Elsa ^b   Säll, Torbjörn ^c   Lethagen, Stefan ^b,d,e   Halldén, Christer ^c,f  

^a SWEDISH UNIVERSITY OF AGRICULTURAL SCIENCES   (Sweden)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c LUND UNIVERSITY   (Sweden)

^d Mental Health Center Glostrup   (Denmark)

^e NOVO NORDISK A S   (Denmark)

^f KRISTIANSTAD UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; CLINICAL ARTICLE; EXON; FAMILY; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRON; LETTER; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN; VON WILLEBRAND DISEASE; VWF GENE;

FAMILY; HAPLOTYPES; HEMORRHAGE; HUMANS; MICROSATELLITE REPEATS; PEDIGREE; PENETRANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION; SWEDEN; VON WILLEBRAND DISEASE, TYPE 1; VON WILLEBRAND FACTOR;

EID: 79955394321     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH10-08-0556     Document Type: Letter

References (9)

1. Gallinaro L, Cattini MG, Sztukowska M, et al. A shorter von Willebrand factor survival in O blood group subjects explains how ABO determinants influence plasma von Willebrand factor. Blood 2008; 111: 3540-3545.
2. Cumming A, Grundy P, Keeney S, et al. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost 2006; 96: 630-641.
3. Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed with Type 1 von Willebrand Disease in the European study, molecular and clinical markers for the diagnosis and management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007; 109: 112-121.
4. James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood 2007; 109: 145-154.
5. Sutherland MS, Cumming AM, Bowman M, et al. A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. Blood 2009; 114: 1091-1098.
6. Yu C, Dawson G, Munson J, et al. Presence of large deletions in kindreds with autism. Am J Hum Genet 2002; 71: 100-115.
7. Yi L, Xu Z-F, Mo X-M, et al. New tetranucleotide STRP markers for detecting the 22q11.2 deletion. Mol Cell Probes 2006; 20: 359-365.
8. Johansson AM, Hillarp A, Säll T, et al. Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. Thromb Haemost 2005; 94: 951-957.
9. Lanke E, Johansson AM, Halldén C, et al. Genetic analysis of 31 Swedish type 1 von Willebrand disease families reveals incomplete linkage to the von Willebrand factor gene and a high frequency of a certain disease haplotype. J Thromb Haemost 2005; 3: 2656-2663.