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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Bibliografische gegevens
Gepubliceerd in:Eur J Hum Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2015
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Policy
Online toegang: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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