Analysis of FANCA gene mutation in a child with refractory leukocytopenia and thrombocytopenia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 468-471, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-771988
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a child affected with refractory leukocytopenia and thrombocytopenia.@*METHODS@#Clinical manifestation and auxiliary examination of the child were discussed. Whole exome next generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) were used to detected potential mutations of the FANCA gene.@*RESULTS@#Repeated blood tests indicated that the child had abnormal WBC count at (2.7-3.98)×10
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Trombocitopenia
/
Exones
/
Proteína del Grupo de Complementación A de la Anemia de Fanconi
/
Genética
/
Heterocigoto
/
Leucopenia
/
Mutación
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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