Two novel mutations (Pro864His, Val867Glu) causing type 2A von Willebrand disease and affecting a single restriction site in exon 28

British Journal of Haematology

Volumn 103, Issue 3, 1998, Pages 885-887

  Bernardi, F ^a   Casonato, A ^b,d   Marchetti, G ^a   Gemmati, D ^a   Bizzaro, N ^c   Pontara, E ^b   Girolami, A ^b  

^a UNIVERSITY OF FERRARA   (Italy)

^b Uiniversita' di Padova   (Italy)

^c Ospedale San Dona' di Piave   (Italy)

^d UNIVERSITY HOSPITAL OF PADOVA   (Italy)

Author keywords

2A von Willebrand disease; Von Willebrand factor; Von Willebrand gene mutation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; EXON; FEMALE; GENE AMPLIFICATION; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VON WILLEBRAND DISEASE;

ADULT; EXONS; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 0031787905     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1998.01064.x     Document Type: Article

References (12)

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