Autosomal recessive von willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von willebrand factor gene

Acta Haematologica

Volumn 121, Issue 2-3, 2009, Pages 106-110

  Castaman, G ^a   Giacomelli, S ^a   Rodeghiero, F ^a  

^a SAN BORTOLO HOSPITAL   (Italy)

Author keywords

Autosomal recessive disease; C2362F; Desmopressin response; Multimeric patterns; Von Willebrand disease type 3

Indexed keywords

BLOOD CLOTTING FACTOR 8; VON WILLEBRAND FACTOR; ARGIPRESSIN[1 DEAMINO];

AUTOSOMAL RECESSIVE INHERITANCE; BLEEDING; DISEASE TRANSMISSION; EXON; FAMILY; GENE FREQUENCY; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SHORT SURVEY; VON WILLEBRAND DISEASE; VON WILLEBRAND DISEASE TYPE 1; VON WILLEBRAND DISEASE TYPE 2; CHEMISTRY; CHILD; CLASSIFICATION; FEMALE; GENETIC HETEROGENEITY; GENETICS; GENOTYPE; INFANT; INTRON; MALE; MISSENSE MUTATION; POINT MUTATION; PRESCHOOL CHILD; PROTEIN ELECTROPHORESIS; PROTEIN QUATERNARY STRUCTURE; PROTEIN TERTIARY STRUCTURE; RECESSIVE GENE; RETROSPECTIVE STUDY; REVIEW; RNA SPLICING; STOP CODON;

BLOOD PROTEIN ELECTROPHORESIS; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DEAMINO ARGININE VASOPRESSIN; FACTOR VIII; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; INFANT; INTRONS; MALE; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; PROTEIN STRUCTURE, QUATERNARY; PROTEIN STRUCTURE, TERTIARY; RETROSPECTIVE STUDIES; RNA SPLICE SITES; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 67649651889     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000214850     Document Type: Short Survey

References (18)

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