Research Article

An online locus-specific mutation database for familial hypertrophic cardiomyopathy

  1. David C.Y. Fung1,2,*,
  2. Bing Yu1,2,
  3. Tim Littlejohn3,
  4. Ronald J. Trent1,2

Article first published online: 28 SEP 1999

DOI: 10.1002/(SICI)1098-1004(199910)14:4<326::AID-HUMU8>3.0.CO;2-F

Issue

Human Mutation

Human Mutation

Volume 14, Issue 4, pages 326–332, October 1999

Additional Information

How to Cite

Fung, D. C., Yu, B., Littlejohn, T. and Trent, R. J. (1999), An online locus-specific mutation database for familial hypertrophic cardiomyopathy. Human Mutation, 14: 326–332. doi: 10.1002/(SICI)1098-1004(199910)14:4<326::AID-HUMU8>3.0.CO;2-F

Author Information

  1. 1

    Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia

  2. 2

    Department of Medicine, University of Sydney, NSW, Australia

  3. 3

    Australian National Genomic Information Service, Australian Technology Park, Everleigh, NSW, Australia

*Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia; Fax: +61-2-9515-7595

Publication History

  1. Issue published online: 28 SEP 1999
  2. Article first published online: 28 SEP 1999
  3. Manuscript Accepted: 19 JUL 1999
  4. Manuscript Received: 22 APR 1999

Funded by

  • Rebecca L. Cooper Medical Research Foundation

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Keywords:

  • mutation database;
  • locus-specific database;
  • online data service;
  • FHC;
  • MYH7

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 It also serves as a means of publishing previously unpublished data, which could be of value in understanding genotype/phenotype correlations.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. Hum Mutat 14:326–332, 1999. © 1999 Wiley-Liss, Inc.

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