Detection of Novel C4517G (Ser743Trp) Mutation in a Family with Type 2A von Willebrand Disease / 대한혈액학회지
Korean Journal of Hematology
;
: 274-278, 2003.
Artigo
em Coreano
| WPRIM
| ID: wpr-720098
ABSTRACT
Quantitative von Willebrand disease (VWD) are divided into partial deficiency (type 1) and total deficiency (type 3). Qualitative VWD are devided further into four subcategories (2A, 2B, 2M, 2N) based upon the major mechanism by which von Willebrand factor (VWF) function is impaired. Type 2A is characterized by the absence of large molecular weight VWF multimers and a number of mutations have been identified in the region encoding the A2 domain of VWF where a normal cleavage site is situated. Here, we report a case of type 2A VWD in a 5 year-old girl with a novel C4517G (Ser743Trp) mutation, which was also detected in her mother.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Doenças de von Willebrand
/
Fator de von Willebrand
/
Doença de von Willebrand Tipo 2
/
Peso Molecular
/
Mães
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
/
Pesquisa qualitativa
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Hematology
Ano de publicação:
2003
Tipo de documento:
Artigo
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