Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency.
Details
Serval ID
serval:BIB_E4FD52301CF4
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency.
Journal
Hamostaseologie
ISSN
0720-9355 (Print)
ISSN-L
0720-9355
Publication state
Published
Issued date
05/2009
Peer-reviewed
Oui
Volume
29
Number
2
Pages
184-186
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Publication Status: ppublish
Abstract
The genotype-phenotype relationship of compound heterozygous factor X deficiency in a young girl with severe factor X deficiency and bleeding symptoms is characterized. We identified a novel deletion of exon 6 and a missense mutation (c.856G>A, Val286Met) in exon 7 of the F10 gene leading to a compound heterozygous state and causing severe factor X deficiency. Therapeutic options for patients with symptomatic factor X deficiency are demonstrated.
Keywords
Exons, Factor X/genetics, Factor X Deficiency/diagnosis, Factor X Deficiency/genetics, Female, Gene Deletion, Genotype, Hemorrhage/etiology, Humans, Infant, Mutation, Missense, Phenotype
Pubmed
Create date
03/12/2015 11:03
Last modification date
24/02/2024 8:34
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