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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2014
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970950/
https://www.ncbi.nlm.nih.gov/pubmed/24741310
http://dx.doi.org/10.2147/IJN.S58692

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970950/
https://www.ncbi.nlm.nih.gov/pubmed/24741310
http://dx.doi.org/10.2147/IJN.S58692

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