c.259A>C in the fibrinogen gene of alpha chain (
dysfibrinogenemia
exome sequencing
structural modeling
thrombophilia
thrombosis
Journal
The application of clinical genetics
ISSN: 1178-704X
Titre abrégé: Appl Clin Genet
Pays: New Zealand
ID NLM: 101579789
Informations de publication
Date de publication:
2019
2019
Historique:
entrez:
19
3
2019
pubmed:
19
3
2019
medline:
19
3
2019
Statut:
epublish
Résumé
Dysfibrinogenemia is a rare inherited disease that results from mutation in one of the three fibrinogen genes. Diagnosis can be misleading since it may present as a bleeding tendency or thrombosis and a specific coagulation test for diagnosis is not routinely available. To search for a new candidate gene of thrombophilia in a family with three generations of arterial and venous thrombosis. Whole exome sequencing followed by Sanger validation and segregation analysis was carried out. In addition, structural modeling was performed. Screening for thrombophilia along with blood counts, prothrombin time, activated partial thromboplastin, thrombin, reptilase time, and fibrinogen was done in each patient. A missense c.259A>C, p.K87Q (g.chr4: 155510050A-C) (rs764281241) in The occurrence of the c.259A>C mutation in
Identifiants
pubmed: 30881084
doi: 10.2147/TACG.S190599
pii: tacg-12-027
pmc: PMC6400116
doi:
Types de publication
Journal Article
Langues
eng
Pagination
27-33Déclaration de conflit d'intérêts
Disclosure The authors report no conflicts of interest in this work.
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