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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove Medical Press
2014
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Materias: | |
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 |
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