A Nonsense C5797T (R1933X) Mutation of MYH9 Gene in a Family with May-Hegglin Anomaly / 대한혈액학회지
Korean Journal of Hematology
;
: 253-256, 2001.
Artigo
em Coreano
| WPRIM
| ID: wpr-720525
ABSTRACT
May-Hegglin anomaly (MHA) is an autosomal dominant disorder characterized by macrothrombocytopenia and leukocyte inclusions. In 1992, we reported the first Korean case of MHA family. Again, in this family, we identified a nonsense C5797T mutation (R1933X) in the MYH9 gene, encoding non-muscle myosin heavy chain A. To the best of our knowledge, our genetic study in this MHA family is the first report of mutation resulting in the truncation of 28 of 34 amino acids of the carboxy-terminal tailpiece of the myosin heavy chain in Korea.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Corpos de Inclusão
/
Miosinas
/
Cadeias Pesadas de Miosina
/
Aminoácidos
/
Coreia (Geográfico)
/
Leucócitos
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Korean Journal of Hematology
Ano de publicação:
2001
Tipo de documento:
Artigo
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