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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Bibliographic Details
Main Authors: Hoang, L, Byck, S, Prevost, L, Scriver, C R
Format: Artigo
Language:Inglês
Published: 1996
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC145593/
https://ncbi.nlm.nih.gov/pubmed/8594560
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