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Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing

Hyperphenylalaninemia (HPA) is the most common inherited amino acid metabolism disorder characterized by serious clinical manifestations, including irreversible brain damage, intellectual deficiency and epilepsy. Due to its extensive genic and allelic heterogeneity, next-generation sequencing (NGS)...

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Detalles Bibliográficos
Autores principales:	Tendi, Elisabetta Anna, Morello, Giovanna, Guarnaccia, Maria, La Cognata, Valentina, Petralia, Salvatore, Messina, Maria Anna, Meli, Concetta, Fiumara, Agata, Ruggieri, Martino, Cavallaro, Sebastiano
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377317/ https://www.ncbi.nlm.nih.gov/pubmed/37509538 http://dx.doi.org/10.3390/biomedicines11071899

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