A novel F13A1 gene mutation (Arg208Pro) in a Chinese patient with factor XIII deficiency.
Blood Coagul Fibrinolysis
; 33(6): 337-341, 2022 Sep 01.
Article
em En
| MEDLINE
| ID: mdl-35981255
ABSTRACT
The objective of the study was to analyse a novel F13A1 gene mutation in a Chinese patient with factor XIII (FXIII) deficiency and explore the molecular mechanism. Pedigree investigation, clinical diagnosis, phenotypic and genetic analysis were conducted. The F13A1 gene was amplified by PCR and directly sequenced. Online bioinformatics software was needed to analyse the mutation. A novel mutation c.515G>C (p.Arg208Pro) in exon 4 was found in the proband. Protein Arg208 is conserved highly among homologous species. Bioinformatics software showed that Arg208Pro mutation might affect the protein function. We preliminarily believed the mutation Arg208Pro was responsible for the decrease FXIII level. We reported a novel mutation in the F13A1 gene, which can flesh out the mutant library.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deficiência do Fator XIII
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Blood Coagul Fibrinolysis
Assunto da revista:
ANGIOLOGIA
/
HEMATOLOGIA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China