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1.
Novel characterization of a breakpoint in F8: an individualized approach to gene analysis when PCR and MLPA results contradict.
Haemophilia
; 21(3): 392-397, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25622659
2.
A novel alanine or threonine 789 to proline mutation causing type 2N von Willebrand's disease when inherited homozygously or heterozygously with arginine 854 to glutamine mutation.
Haemophilia
; 16(6): 966-9, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20491956
3.
A new candidate missense mutation (Leu 1657 IIe) in an apparently asymptomatic type 2A (phenotype IIA) von Willebrand disease family.
Thromb Haemost
; 84(3): 369-73, 2000 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-11019957
4.
Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques.
Thromb Haemost
; 75(6): 959-64, 1996 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-8822593
5.
Deletions and duplications in the factor VIII gene identified using multiplex ligation-dependent probe amplification.
J Thromb Haemost
; 9(3): 605-7, 2011 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21143378
6.
Aberrant dimerization of von Willebrand factor as the result of mutations in the carboxy-terminal region: identification of 3 mutations in members of 3 different families with type 2A (phenotype IID) von Willebrand disease.
Blood
; 98(3): 674-80, 2001 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-11468166
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