Article
PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.
Nucleic acids research - 1 Jan 1996
Hoang L, Byck S, Prevost L, Scriver C R
Abstract excerpt
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 polym...
Topics
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Chromosome Mapping
- Computer Communication Networks
- Computer Graphics
- DNA Mutational Analysis
- Databases, Factual
- Genetic Variation
- Humans
- Phenylalanine Hydroxylase
- Terminology as Topic