Heat-transfer-based detection of SNPs in the PAH gene of PKU patients

Conventional neonatal diagnosis of phenylketonuria is based on the presence of abnormal levels of phenylalanine in the blood. However, for carrier detection and prenatal diagnosis, direct detection of disease-correlated mutations is needed. To speed up and simplify mutation screening in genes, new t...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Vanden Bon, Natalie, van Grinsven, Bart, Murib, Mohammed Sharif, Yeap, Weng Siang, Haenen, Ken, De Ceuninck, Ward, Wagner, Patrick, Ameloot, Marcel, Vermeeren, Veronique, Michiels, Luc
Format: Artigo
Langue:Inglês
Publié: Dove Medical Press 2014
Sujets:
Original Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3970950/
https://ncbi.nlm.nih.gov/pubmed/24741310
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/IJN.S58692
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