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.
Article
in Chinese
| 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
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Thrombocytopenia
/
Exons
/
Fanconi Anemia Complementation Group A Protein
/
Genetics
/
Heterozygote
/
Leukopenia
/
Mutation
Limits:
Child
/
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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