Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency.
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
26 Jul 2024
26 Jul 2024
Historique:
received:
11
11
2023
accepted:
29
06
2024
revised:
14
05
2024
medline:
27
7
2024
pubmed:
27
7
2024
entrez:
26
7
2024
Statut:
epublish
Résumé
Here, we report a novel PROS1 splicing mutation in a patient with type I protein S deficiency. Qualitative and quantitative analysis of pathogenic splicing variants at the mRNA level was performed by long-range PCR-based targeted DNA and RNA sequencing. A base substitution in the exon 4 splicing donor site activates a potential splicing donor site in intron 4, resulting in an in-frame insertion of 48 bases (16 amino acids).
Identifiants
pubmed: 39060248
doi: 10.1038/s41439-024-00286-9
pii: 10.1038/s41439-024-00286-9
doi:
Types de publication
Journal Article
Langues
eng
Pagination
28Subventions
Organisme : Kanazawa Medical University
ID : 11181
Organisme : Kanazawa Medical University
ID : 26699
Informations de copyright
© 2024. The Author(s).
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