Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test

Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most frequent phenylalanine hydroxylase (PAH, Gene ID: 5053) mutations. Using this method to detect the 18 most frequent mutations, it is possible...

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Publicado en:Methods Protoc
Main Authors: Tolve, Manuela, Artiola, Cristiana, Pasquali, Amelia, Giovanniello, Teresa, D’Amici, Sirio, Angeloni, Antonio, Pizzuti, Antonio, Carducci, Claudia, Leuzzi, Vincenzo, Carducci, Carla
Formato: Artigo
Idioma:Inglês
Publicado: MDPI 2018
Assuntos:
Technical Note
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6481045/
https://ncbi.nlm.nih.gov/pubmed/31164572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/mps1030030
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