Cell-free fetal DNA as a non-invasive method using pyrosequencing in detecting beta-globin gene mutation: A pilot study from area with limited facilities in Indonesia

BACKGROUND: Thalassemia is a monogenic, autosomal recessive, inherited disorder of the red blood cells caused by mutations or deletions in the globin gene. Approximately 6–10% of the Indonesian population carries the β-globin gene mutation; however, premarital screening is rarely conducted, and ante...

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Detalles Bibliográficos
Autores principales: Maskoen, Ani Melani, Rahayu, Nurul Setia, Laksono, Bremmy, Fibriani, Azzania, Soewondo, Willyanti, Mose, Johanes C., Sahiratmadja, Edhyana, Panigoro, Ramdan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386223/
https://www.ncbi.nlm.nih.gov/pubmed/35990000
http://dx.doi.org/10.3389/fped.2022.902879

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386223/
https://www.ncbi.nlm.nih.gov/pubmed/35990000
http://dx.doi.org/10.3389/fped.2022.902879

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