Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy

BACKGROUND: Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to correctly predict disease severity. The aim of t...

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Detalles Bibliográficos
Autores principales: Rovelli, Valentina, Cefalo, Graziella, Ercoli, Vittoria, Zuvadelli, Juri, Olivia, Turri, Graziani, Daniela, Luisella, Alberti, Bassi, Davide, Re Dionigi, Alice, Selmi, Raed, Paci, Sabrina, Salvatici, Elisabetta, Banderali, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10000623/
https://www.ncbi.nlm.nih.gov/pubmed/36537053
http://dx.doi.org/10.1002/edm2.396

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