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Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR)

OBJECTIVES: Inherited disorders of haemoglobin are the world’s most common genetic diseases, resulting in significant morbidity and mortality. The large number of mutations associated with the haemoglobin beta gene (HBB) makes gene scanning by High Resolution Melting (HRM) PCR an attractive diagnost...

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Detalles Bibliográficos
Autores principales:	Turner, Andrew, Sasse, Jurgen, Varadi, Aniko
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Technical Advance
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070150/ https://www.ncbi.nlm.nih.gov/pubmed/27756326 http://dx.doi.org/10.1186/s12881-016-0334-y

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