EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected...

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Detalles Bibliográficos
Autores principales: Traeger-Synodinos, Joanne, Harteveld, Cornelis L, Old, John M, Petrou, Mary, Galanello, Renzo, Giordano, Piero, Angastioniotis, Michael, De la Salle, Barbara, Henderson, Shirley, May, Alison
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Policy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666573/
https://www.ncbi.nlm.nih.gov/pubmed/25052315
http://dx.doi.org/10.1038/ejhg.2014.131

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