title: PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.
abstract: 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 polymorphic) at the locus. Information is distributed by Newsletter, diskette (WINPAHDB software stand-alone executable on IBM compatible hardware), and at a 'real' site on the Worldwide Web (http://www.mcgill.ca/pahdb). The database presently records (Sept. 27, 1995) 248 alleles in 798 different associations (with polymorphic haplotype, geographic region and population) along with additional information. The database, as a record of human genetic diversity, at a particular locus, contributes to the study of human evolution and demic expansion; it also has medical relevance.
authors.affiliation: The DeBelle Laboratory, McGill University-Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada.
authors.forename: L
authors.initials: L
authors.lastname: Hoang
authors.forename: S
authors.initials: S
authors.lastname: Byck
authors.forename: L
authors.initials: L
authors.lastname: Prevost
authors.forename: C R
authors.initials: CR
authors.lastname: Scriver
mesh_terms: D000483:Alleles; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics; D002874:Chromosome Mapping; D003195:Computer Communication Networks; D003196:Computer Graphics; D004252:DNA Mutational Analysis; D016208:Databases, Factual; D014644:Genetic Variation; D006801:Humans; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D009626:Terminology as Topic
chemical_list: D010651:Phenylalanine Hydroxylase