PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.
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Hoang L, Byck S, Prevost L, Scriver CR
PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.
Nucleic Acids Res. 1996 Jan 1;24(1):127-31.
- PubMed ID
- 8594560 [ View in PubMed]
- 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.