Literature DB >> 10502780

An online locus-specific mutation database for familial hypertrophic cardiomyopathy.

D C Fung1, B Yu, T Littlejohn, R J Trent.   

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 It also serves as a means of publishing previously unpublished data, which could be of value in understanding genotype/phenotype correlations.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. Copyright 1999 Wiley-Liss, Inc.

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Year:  1999        PMID: 10502780     DOI: 10.1002/(SICI)1098-1004(199910)14:4<326::AID-HUMU8>3.0.CO;2-F

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  3 in total

1.  MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India.

Authors:  Reena R Tanjore; Advithi Rangaraju; P G Kerkar; Narsimhan Calambur; Pratibha Nallari
Journal:  Can J Cardiol       Date:  2008-02       Impact factor: 5.223

2.  Crystal structures of human cardiac beta-myosin II S2-Delta provide insight into the functional role of the S2 subfragment.

Authors:  Wulf Blankenfeldt; Nicolas H Thomä; John S Wray; Mathias Gautel; Ilme Schlichting
Journal:  Proc Natl Acad Sci U S A       Date:  2006-11-09       Impact factor: 11.205

3.  Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein.

Authors:  Pavel Capek; Jiri Vondrasek; Jiri Skvor; Radim Brdicka
Journal:  Croat Med J       Date:  2011-06       Impact factor: 1.351

  3 in total

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