A Novel -72 (T→A) β-Promoter Mutation Causing Slightly Elevated HbA(2) in a Vietnamese Heterozygote

We report a novel β(+)-thalassemia mutation found in a Vietnamese family. The molecular defect T→A lies at -72 of the β-globin gene promoter, within the conserved CCAAT box. The index case was a 5-year-old child having red blood cells indices close to normal and slightly increased level of HbA(2) (3...

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Detalles Bibliográficos
Autores principales: Pirastru, Monica, Mereu, Paolo, Nguyen, Chau Quynh, Nguyen, Nhan Viet, Nguyen, Thang Duy, Manca, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5414490/
https://www.ncbi.nlm.nih.gov/pubmed/28503568
http://dx.doi.org/10.1155/2017/4537409

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5414490/
https://www.ncbi.nlm.nih.gov/pubmed/28503568
http://dx.doi.org/10.1155/2017/4537409

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