The PAH mutation analysis consortium database: update 1996

@article{Nowacki1997ThePM,
  title={The PAH mutation analysis consortium database: update 1996},
  author={Piotr M. Nowacki and Susan Byck and Lynne Prevost and Charles R. Scriver},
  journal={Nucleic acids research},
  year={1997},
  volume={25 1},
  pages={139-42}
}
A website (http://www.mcgill.ca/pahdb ) is maintained by the curators for a Consortium (88 investigators, 28 countries) and all other users; it serves a relational database for human locus-specific genetic variation in a defined DNA sequence (GenBank U49897); (100 kb on human chromosome 12q24.1, gene symbol PAH). The intragenic nucleotide variation is both rare (Q< 0.01), extensive (>320 different mutations) and phenotype modifying, causing hyperphenylalaninemia by impairing phenylalanine… CONTINUE READING