Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China

Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China

Background: The aim of this study was to design and analyze the applicability of a 21-gene high-throughput sequencing (HTS) panel in the molecular diagnosis of patients with hereditary thrombocytopenia (HT). Methods: A custom target enrichment library was designed to capture 21 genes known to be ass...

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Bibliographic Details
Main Authors: Dou, Y. (Author), Guan, X. (Author), Guo, Y. (Author), Luo, M. (Author), Wen, X. (Author), Xian, Y. (Author), Yu, J. (Author), Zhang, L. (Author)
Format: Article
Language:English
Published: John Wiley and Sons Inc 2021
Subjects:
ABCG8 gene
ADAMTS13 gene
adolescent
Adolescent
ANKRD26 gene
Article
Asian
Asians
child
Child
Child, Preschool
China
clinical article
cohort analysis
controlled study
diagnostic test accuracy study
diagnostic value
female
Female
FLNA gene
gene
gene function
gene identification
genetic association
genetic variability
genetic variation
Genetic Variation
genetics
GP1BA gene
hereditary thrombocytopenia
high throughput sequencing
High-Throughput Nucleotide Sequencing
high-throughput sequencing
human
Humans
infant
Infant
Infant, Newborn
ITGB3 gene
male
Male
molecular diagnosis
MYH9 gene
NBEAL2 gene
newborn
phenotype
platelet count
predictive value
preschool child
prevalence
Prevalence
procedures
school child
thrombocytopenia
Thrombocytopenia
von Willebrand factor
von Willebrand factor cleaving proteinase
VWF gene
WAS gene
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