Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient gel...

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Autors principals: Calì, Francesco, Ruggeri, Giuseppa, Vinci, Mirella, Meli, Concetta, Carducci, Carla, Leuzzi, Vincenzo, Pozzessere, Simone, Schinocca, Pietro, Ragalmuto, Alda, Chiavetta, Valeria, Miccichè, Salvatore, Romano, Valentino
Format: Artigo
Idioma:Inglês
Publicat: Korean Society for Biochemistry and Molecular Biology 2010
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2827832/
https://ncbi.nlm.nih.gov/pubmed/19946181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3858/emm.2010.42.2.009
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