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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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2015
Konular:
Policy
Online Erişim: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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