PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.

The PAH Mutation Analysis Consortium (81 investigators, 26 countries) is engaged in mutation detection at the human PAH locus. Ascertainment of probands occurs largely through newborn screening for hyperphenylalaninemia. A relational database records allelic variation (disease-producing and polymorp...

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Détails bibliographiques

Publié dans:	Nucleic Acids Res
Auteurs principaux:	Hoang, L, Byck, S, Prevost, L, Scriver, C R
Format:	Artigo
Langue:	Inglês
Publié:	Oxford University Press 1996
Sujets:	Research Article
Accès en ligne:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC145593/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8594560/ https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/24.1.127
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