A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies

Several types of haemoglobinopathies are caused by copy number variants (CNVs). While diagnosis is often based on haematological and biochemical parameters, a definitive diagnosis requires molecular DNA analysis. In some cases, the molecular characterisation of large deletions/duplications is challe...

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Detalles Bibliográficos
Autores principales: Minaidou, Anna, Tamana, Stella, Stephanou, Coralea, Xenophontos, Maria, Harteveld, Cornelis L., Bento, Celeste, Kleanthous, Marina, Kountouris, Petros
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9782104/
https://www.ncbi.nlm.nih.gov/pubmed/36555557
http://dx.doi.org/10.3390/ijms232415920

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