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

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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Bibliographic Details
Main Authors: Anna Minaidou, Stella Tamana, Coralea Stephanou, Maria Xenophontos, Cornelis L. Harteveld, Celeste Bento, Marina Kleanthous, Petros Kountouris
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:International Journal of Molecular Sciences
Subjects:
haemoglobinopathies
copy number variants (CNVs)
MLPA
Online Access:https://www.mdpi.com/1422-0067/23/24/15920

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