Type I antithrombin deficiency due to 13389G deletion in antithrombin gene / 中华血液学杂志
Chinese Journal of Hematology
; (12): 588-590, 2002.
Article
en Zh
| WPRIM
| ID: wpr-261394
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the gene mutation of a kindred with type I antithrombin deficiency.</p><p><b>METHODS</b>All of the seven exons and intron-exon boundaries of antithrombin gene were analysed by PCR and direct sequencing of amplified PCR products from the propositus.</p><p><b>RESULTS</b>A 13389G deletion in exon 6 was characterized in propositus, and this mutation led to frameshift.</p><p><b>CONCLUSION</b>This is a novel mutation, which can cause antithrombin deficiency and thrombosis.</p>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Linaje
/
ADN
/
Análisis Mutacional de ADN
/
Secuencia de Bases
/
Química
/
Antitrombinas
/
Salud de la Familia
/
Mutación del Sistema de Lectura
/
Eliminación de Secuencia
/
Genética
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
Zh
Revista:
Chinese Journal of Hematology
Año:
2002
Tipo del documento:
Article