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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Detaylı Bibliyografya

Yayımlandı:	Nucleic Acids Res
Asıl Yazarlar:	Hoang, L, Byck, S, Prevost, L, Scriver, C R
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	Oxford University Press 1996
Konular:	Research Article
Online Erişim:	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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