Premium
An online locus‐specific mutation database for familial hypertrophic cardiomyopathy
Author(s) -
Fung David C.Y.,
Yu Bing,
Littlejohn Tim,
Trent Ronald J.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(199910)14:4<326::aid-humu8>3.0.co;2-f
Subject(s) - hypertrophic cardiomyopathy , locus (genetics) , biology , database , national database , phenotype , genetics , computational biology , world wide web , computer science , gene , biochemistry
The aim of this locus-specific mutation database was to provide an online resource that contains summarised and updated information on familial hypertrophic cardiomyopathy (FHC)-associated mutations and related data, for researchers and clinicians. It also serves as a means of publishing previously unpublished data, which could be of value in understanding genotype/phenotype correlations. There are 123 FHC-associated mutations catalogued along with ancillary information. By implementing the cgi/http method, remote users can query the database via the HTML interface on the Web browser and obtain data of relevance to them. The online service is available on http://www.angis.org.au/Databases/Heart.