An unexpected transmission of von Willebrand disease type 3: The first case of maternal uniparental disomy 12

Haematologica

Volumn 96, Issue 10, 2011, Pages 1567-1568

  Boisseau, Pierre ^a,d   Giraud, Mathilde ^a,d   Ternisien, Catherine ^a,d   Veyradier, Agnès ^c,d   Fressinaud, Edith ^c,d   Lefrancois, Armelle ^a,d   Bezieau, Stéphane ^a,b,d   Fouassier, Marc ^a,d  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE NANTES   (France)

^c HÔPITAL ANTOINE BÉCLÈRE   (France)

^d Centre National de Référence de la Maladie de Willebrand   (France)

Author keywords

Chromosome 12; Type 3; Uniparental disomy; Von Willebrand

Indexed keywords

BLEEDING; CASE REPORT; CHILD; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENETIC ANALYSIS; HOMOZYGOTE; HUMAN; LETTER; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRESCHOOL CHILD; UNIPARENTAL DISOMY; UNIPARENTAL DISOMY 12; VON WILLEBRAND DISEASE; VWF GENE;

ALLELES; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 12; FEMALE; GENOTYPE; HEMATOLOGIC TESTS; HUMANS; PEDIGREE; SEQUENCE DELETION; UNIPARENTAL DISOMY; VON WILLEBRAND DISEASE, TYPE 3;

EID: 80053652433     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2010.036897     Document Type: Letter

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