Large Intron Inversions in Romanian Patients with Hemophilia A—First Report

Background and Objectives: Despite the vast heterogeneity in the genetic defects causing hemophilia A (HA), large intron inversions represent a major cause of disease, accounting for almost half of the cases of severe HA worldwide. We investigated the intron 22 and intron 1 inversion status in a coh...

Descripción completa

Detalles Bibliográficos
Autores principales: Brinza, Melen, Grigore, Andra, Dragomir, Mihaela, Jardan, Dumitru, Jardan, Cerasela, Balanescu, Paul, Tarniceriu, Claudia Cristina, Badulescu, Oana Viola, Blag, Cristina, Tomuleasa, Ciprian, Traila, Adina, Serban, Margit, Coriu, Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10608589/
https://www.ncbi.nlm.nih.gov/pubmed/37893540
http://dx.doi.org/10.3390/medicina59101821

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10608589/
https://www.ncbi.nlm.nih.gov/pubmed/37893540
http://dx.doi.org/10.3390/medicina59101821

Ejemplares similares