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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
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Online adgang: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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