| Autor: |
C R, Scriver, P J, Waters, C, Sarkissian, S, Ryan, L, Prevost, D, Côté, J, Novak, S, Teebi, P M, Nowacki |
| Rok vydání: |
1999 |
| Předmět: |
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| Zdroj: |
Human mutation. 15(1) |
| ISSN: |
1059-7794 |
| Popis: |
PAHdb is an online relational locus-specific "mutation database" (http://www.mcgill.ca/pahdb) for the human phenylalanine hydroxylase gene (symbol PAH) and its associated phenotypes (protein, metabolic, clinical). When combined with associated information (population distribution of allele, haplotype association, etc.) PAHdb functions as a knowledgebase. From the outset, and in the absence of raw data (e.g., sequence gels), PAHdb has instead been an annotated repository of information about mutations maintained by a team of curators. It is also disease-oriented, being focused on a variant phenotype (hyperphenylalaninemia (HPA) and its most important form of disease, phenylketonuria (PKU)) resulting from primary dysfunction of the PAH enzyme (EC 1.14.16.1); it is "patient friendly" in that it contains information for those personally involved with HPA/PKU (MIM# 261600). PAHdb also serves its community through direct interaction. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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