Uncovering Deletion/Insertion Mutations in Veno-Occlusive Disease with Immunodeficiency Syndrome in An Iranian Family: A Case Report.
Bioinformatics
Mutation
SP110 Protein
Veno-occlusive disease with immunodeficiency syndrome
Whole-exome sequencing
Journal
Cell journal
ISSN: 2228-5806
Titre abrégé: Cell J
Pays: Iran
ID NLM: 101566618
Informations de publication
Date de publication:
07 Oct 2024
07 Oct 2024
Historique:
received:
19
02
2024
medline:
9
10
2024
pubmed:
9
10
2024
entrez:
9
10
2024
Statut:
epublish
Résumé
Veno-occlusive disease with immunodeficiency (VODI) syndrome is a rare genetic disorder characterized by immune system irregularities and a significant mortality rate, despite its infrequency.
Identifiants
pubmed: 39380482
doi: 10.22074/cellj.2024.2023359.1514
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng