The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

The Human Gene Mutation Database (HGMD(®)) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutatio...

Descripción completa

Detalles Bibliográficos
Autores principales: Stenson, Peter D., Mort, Matthew, Ball, Edward V., Shaw, Katy, Phillips, Andrew D., Cooper, David N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2013
Materias:
Review Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898141/
https://www.ncbi.nlm.nih.gov/pubmed/24077912
http://dx.doi.org/10.1007/s00439-013-1358-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898141/
https://www.ncbi.nlm.nih.gov/pubmed/24077912
http://dx.doi.org/10.1007/s00439-013-1358-4

Ejemplares similares