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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Bibliografiske detaljer

Udgivet i:	Nucleic Acids Res
Principais autores:	Hoang, L, Byck, S, Prevost, L, Scriver, C R
Format:	Artigo
Sprog:	Inglês
Udgivet:	Oxford University Press 1996
Fag:	Research Article
Online adgang:	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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