PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

PAHdb (http://www.mcgill.ca/pahdb ) is a curated relational database (Fig. 1) of nucleotide variation in the human PAH cDNA (GenBank U49897). Among 328 different mutations by state (Fig. 2) the majority are rare mutations causing hyperphenylalaninemia (HPA) (OMIM 261600), the remainder are polymorph...

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Detalles Bibliográficos
Main Authors: Nowacki, P M, Byck, S, Prevost, L, Scriver, C R
Formato: Artigo
Idioma:Inglês
Publicado: 1998
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC147234/
https://ncbi.nlm.nih.gov/pubmed/9399840
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