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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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Policy
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4666573/
https://ncbi.nlm.nih.gov/pubmed/25052315
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.131
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