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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Hoang, L, Byck, S, Prevost, L, Scriver, C R
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1996
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC145593/
https://ncbi.nlm.nih.gov/pubmed/8594560
Tagiau: Ychwanegu Tag
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