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Article: G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations

TitleG6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations
Authors
Issue Date2002
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Citation
Human Mutation, 2002, v. 19 n. 3, p. 217-224 How to Cite?
AbstractG6PDdb (http://www.rubic.rdg.ac.uk/g6pd/ or http://www.bioinf.org.uk/g6pd/) is a newly created web-accessible locus-specific mutation database for the human Glucose-6-phosphate dehydrogenase (G6PD) gene. The relational database integrates up-to-date mutational and structural data from various databanks (GenBank, Protein Data Bank, etc.) with biochemically characterized variants and their associated phenotypes obtained from published literature and the Favism website. An automated analysis of the mutations likely to have a significant impact on the structure of the protein has been performed using a recently developed procedure. The database may be queried online and the full results of the analysis of the structural impact of mutations are available. The web page provides a form for submitting additional mutation data and is linked to resources such as the Favism website, OMIM, HGMD, HGVBASE, and the PDB. This database provides insights into the molecular aspects and clinical significance of G6PD deficiency for researchers and clinicians and the web page functions as a knowledge base relevant to the understanding of G6PD deficiency and its management.
Persistent Identifierhttp://hdl.handle.net/10722/223681
ISSN
2015 Impact Factor: 5.089
2015 SCImago Journal Rankings: 3.670

 

DC FieldValueLanguage
dc.contributor.authorKwok, CJ-
dc.contributor.authorMartin, ACR-
dc.contributor.authorAu, SWN-
dc.contributor.authorLam, VMS-
dc.date.accessioned2016-03-04T04:05:59Z-
dc.date.available2016-03-04T04:05:59Z-
dc.date.issued2002-
dc.identifier.citationHuman Mutation, 2002, v. 19 n. 3, p. 217-224-
dc.identifier.issn1059-7794-
dc.identifier.urihttp://hdl.handle.net/10722/223681-
dc.description.abstractG6PDdb (http://www.rubic.rdg.ac.uk/g6pd/ or http://www.bioinf.org.uk/g6pd/) is a newly created web-accessible locus-specific mutation database for the human Glucose-6-phosphate dehydrogenase (G6PD) gene. The relational database integrates up-to-date mutational and structural data from various databanks (GenBank, Protein Data Bank, etc.) with biochemically characterized variants and their associated phenotypes obtained from published literature and the Favism website. An automated analysis of the mutations likely to have a significant impact on the structure of the protein has been performed using a recently developed procedure. The database may be queried online and the full results of the analysis of the structural impact of mutations are available. The web page provides a form for submitting additional mutation data and is linked to resources such as the Favism website, OMIM, HGMD, HGVBASE, and the PDB. This database provides insights into the molecular aspects and clinical significance of G6PD deficiency for researchers and clinicians and the web page functions as a knowledge base relevant to the understanding of G6PD deficiency and its management.-
dc.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515-
dc.relation.ispartofHuman Mutation-
dc.rightsHuman Mutation. Copyright © John Wiley & Sons, Inc.-
dc.rightsSpecial Statement for Preprint only Before publication: 'This is a preprint of an article accepted for publication in [The Journal of Pathology] Copyright © ([year]) ([Pathological Society of Great Britain and Ireland])'. After publication: the preprint notice should be amended to follows: 'This is a preprint of an article published in [include the complete citation information for the final version of the Contribution as published in the print edition of the Journal]' For Cochrane Library/ Cochrane Database of Systematic Reviews, add statement & acknowledgement : ‘This review is published as a Cochrane Review in the Cochrane Database of Systematic Reviews 20XX, Issue X. Cochrane Reviews are regularly updated as new evidence emerges and in response to comments and criticisms, and the Cochrane Database of Systematic Reviews should be consulted for the most recent version of the Review.’ Please include reference to the Review and hyperlink to the original version using the following format e.g. Authors. Title of Review. Cochrane Database of Systematic Reviews 20XX, Issue #. Art. No.: CD00XXXX. DOI: 10.1002/14651858.CD00XXXX (insert persistent link to the article by using the URL: http://dx.doi.org/10.1002/14651858.CD00XXXX) (This statement should refer to the most recent issue of the Cochrane Database of Systematic Reviews in which the Review published.)-
dc.subject.meshDatabases, Genetic-
dc.subject.meshDatabases, Protein-
dc.subject.meshGlucosephosphate Dehydrogenase - genetics-
dc.subject.meshGlucosephosphate Dehydrogenase Deficiency - genetics-
dc.subject.meshMutation - genetics-
dc.titleG6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations-
dc.typeArticle-
dc.identifier.emailLam, VMS: hrmbvel@hkucc.hku.hk-
dc.identifier.doi10.1002/humu.10036-
dc.identifier.pmid11857737-
dc.identifier.hkuros68635-
dc.identifier.volume19-
dc.identifier.issue3-
dc.identifier.spage217-
dc.identifier.epage224-
dc.publisher.placeUnited States-

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