PMID: 8594560Jan 1, 1996Paper

PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus

Nucleic Acids Research
L HoangC R Scriver

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.

References

Jun 1, 1995·Trends in Genetics : TIG·R Harper
Dec 1, 1994·Acta Paediatrica. Supplement·C R Scriver
Jan 1, 1994·Annual Review of Genetics·C R ScriverS Kaufman
Jan 1, 1993·Human Mutation·A L Beaudet, L C Tsui

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Citations

Mar 10, 2007·Journal of Inherited Metabolic Disease·M GiovanniniE Riva
Jan 1, 1997·Nucleic Acids Research·P NowackiC R Scriver
Apr 15, 1999·Pediatric Research·S J RamusR G Cotton
Sep 6, 2008·Journal of Clinical Monitoring and Computing·Shaomin Yan, Guang Wu
Sep 5, 2015·Xenobiotica; the Fate of Foreign Compounds in Biological Systems·Evita VandenbosscheGlyn B Steventon
Nov 4, 1996·FEBS Letters·J OllilaM Vihinen
Sep 23, 2011·Molecular Genetics and Metabolism·Nenad BlauUta Lichter-Konecki
Mar 26, 2003·Human Mutation·Johannes Zschocke
Apr 20, 2007·Human Mutation·Charles R Scriver
Oct 21, 1999·Molecular Genetics and Metabolism·H Erlandsen, R C Stevens
Feb 13, 2001·Molecular Genetics and Metabolism·M J HaefeleJ D McDonald
Dec 29, 1999·Human Mutation·C R ScriverP M Nowacki
Feb 21, 1997·American Journal of Medical Genetics·K K Kidd
Dec 29, 2012·Genetics and Molecular Biology·Yong-An ZhouLiang Yu
Jan 14, 2016·Journal of Child Neurology·Sameh KhemirNaziha Kaabachi
Feb 15, 2018·Physiological Reviews·Ya-Xiong Tao, P Michael Conn
Jun 27, 1998·The Journal of Biological Chemistry·F FusettiR C Stevens
Aug 13, 1998·Journal of Inherited Metabolic Disease·P GuldbergF Güttler

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