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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Detalhes bibliográficos

Publicado no:	Nucleic Acids Res
Principais autores:	Nowacki, P M, Byck, S, Prevost, L, Scriver, C R
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Oxford University Press 1998
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC147234/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9399840/ https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/26.1.220
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