An online locus-specific mutation database for familial hypertrophic cardiomyopathy.
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 It also serves as a means of publishing previously unpublished data, which could be of value in understanding genotype/phenotype correlations.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.
Fung
D C
DC
Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia. dfung@med.usyd.edu.au
Yu
B
B
Littlejohn
T
T
Trent
R J
RJ
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