title: An online locus-specific mutation database for familial hypertrophic cardiomyopathy.
abstract: 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 It also serves as a means of publishing previously unpublished data, which could be of value in understanding genotype/phenotype correlations.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.
authors.affiliation: Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia. dfung@med.usyd.edu.au
authors.forename: D C
authors.initials: DC
authors.lastname: Fung
authors.forename: B
authors.initials: B
authors.lastname: Yu
authors.forename: T
authors.initials: T
authors.lastname: Littlejohn
authors.forename: R J
authors.initials: RJ
authors.lastname: Trent
mesh_terms: D017398:Alternative Splicing; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002874:Chromosome Mapping; D016208:Databases, Factual; D005838:Genotype; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D009862:Online Systems; D010641:Phenotype; D017384:Sequence Deletion; D012984:Software