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URL: http://www.angis.org.au/Databases/Heart/
Proper Citation: Familial Hypertrophic Cardiomyopathy DNA Mutation Database (RRID:SCR_002346)
Description: THIS RESOURCE IS NO LONGER IN SERVICE, documented August 23, 2016. The aim of this locus-specific mutation database was to provide an online resource that contains summarized 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 It also serves as a means of publishing previously unpublished data, which could be of value in understanding genotype/phenotype correlations. This database contains mutations in various genes known to cause familial hypertrophic cardiomyopathy, a genetic disorder associated with defects in the sarcomere [1]. Only gene symbols approved by HUGO are used and mutations are reported in accordance with guidelines recommended by the Mutation Database Initiative of HUGO and EBI.
Synonyms: FHC Mutation Database
Resource Type: data or information resource, database
Defining Citation: PMID:10502780
Keywords: familial, gene, gene-, genetic, cardiomyopathy, clinic, correlation, defect, disorder, genotype, hypertrophic, locus, mutation, or disease- specific databases, phenotype, research, sarcomere, system-
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