An online locus-specific mutation database for familial hypertrophic cardiomyopathy

Human Mutation

Volumn 14, Issue 4, 1999, Pages 326-332

  Fung, David C Y ^a   Yu, Bing ^a   Littlejohn, Tim ^b   Trent, Ronald J ^a  

^a ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^b Australian Technology Park   (Australia)

Author keywords

FHC; Locus specific database; Mutation database; MYH7; Online data service

Indexed keywords

ARTICLE; DATA BASE; GENE LOCUS; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; ONLINE SYSTEM; PHENOTYPE; PRIORITY JOURNAL; PUBLISHING;

ALTERNATIVE SPLICING; CARDIOMYOPATHY, HYPERTROPHIC; CHROMOSOME MAPPING; DATABASES, FACTUAL; GENOTYPE; HUMANS; MUTATION; MUTATION, MISSENSE; ONLINE SYSTEMS; PHENOTYPE; SEQUENCE DELETION; SOFTWARE;

EID: 0032852041     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199910)14:4<326::AID-HUMU8>3.0.CO;2-F     Document Type: Article

References (16)

1. Antonarakis SE, Nomenclature Working Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1-3.
2. Apache Group. 1998. Apache HTTP Server 1.2.5. URL:http:// www.apache.com
3. Bonne G, Carrier L, Richard P, Hainque B, Schwartz K. 1998. Familial hypertrophic cardiomyopathy: from mutations to functional defects. Circ Res 83:580-593.
4. Brown B. 1999. Introductory Java technology and development. In: Proceedings of the JavAus 1999 Conference, Sydney, Australia.
5. Descartes A. 1998. DBI: the database interface. Perl J 2:5.
6. Gundavaram S. 1996. CGI programming on the world wide web. Sebastopol: O'Reilly & Associates; p 423.
7. Marian AJ, Roberts R. 1998. Familial hypertrophic cardiomyopathy: a paradigm of the cardiac hypertrophic response to injury. Ann Med 30(suppl 1):24-32.
8. McKenna W, Spirito P, Desnos M, Dubourg O, Komajda M. 1997. Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart 77:130-132.
9. Poloni ES, Semino O, Passarino G, Santachiara-Benerecetti AS, Dupanloup I, Langaney A, Excoffier L. 1997. Human genetic affinities for Y-chromosome P49a,f/TaqI haplotypes show strong correspondence with linguistics. Am J Hum Genet 61:1015-1035.
10. Roach S. 1999. Advances in virtual machine technology. In: Proceedings of JavAus 1999 Conference, Sydney, Australia.
11. Semsarian C, Yu B, Ryce C, Lawrence C, Washington H, Trent RJ. 1997. Pathology 29:305-308.
12. Stein LD. 1998. Official guide to programming with cgi.pm. New York: John Wiley & Sons; p 299.
13. Tornaletti S, Pfeifer GP. 1994. Slow repair of pyrimidine dimers at p53 mutation hotspots in skin cancer. Science 263:1436-1438.
14. Wacey AI, Tuddenham EGD. 1998. Mutation databases on the Web [editorial]. J Med Genet 35:529-533.
15. WHO/ISFC Taskforce. 1996. Report of the World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation 93:841-842.
16. Yu B, French JA, Carrier L, Jeremy RW, McTaggart DR, Nicholson MR, Hambly B, Semsarian C, Richmond DR, Trent RJ. 1998. Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene. J Med Genet 35:205-210.