Article
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nucleic acids research - 1 Jan 1998
Nowacki P M, Byck S, Prevost L, Scriver C R
Abstract excerpt
PAHdb (http://www.mcgill.ca/pahdb ) is a curated relational database (Fig. 1) of nucleotide variation in the human PAH cDNA (GenBank U49897). Among 328 different mutations by state (Fig. 2) the majority are rare mutations causing hyperphenylalaninemia (HPA) (OMIM 261600), the remainder are polymo...
Topics
- Animals
- Chromosome Mapping
- Computer Communication Networks
- Databases, Factual
- Humans
- Information Storage and Retrieval
- Mice
- Models, Molecular
- Mutation
- Phenylalanine Hydroxylase
- Polymorphism, Genetic
- Software