منابع مشابه
The human gene mutation database
The Human Gene Mutation Database (HGMD) represents a comprehensive core collection of data on published germline mutations in nuclear genes underlying human inherited disease. By September 1997, the database contained nearly 12 000 different lesions in a total of 636 different genes, with new entries currently accumulating at a rate of over 2000 per annum. Although originally established for th...
متن کاملThe mammalian gene mutation database.
The Mammalian Gene Mutation Database (MGMD) is a comprehensive collection of published mutation data from the open literature on mammalian cell-based gene model mutation detection systems. The database currently contains approximately 30000 comprehensively described mutant spectra records and it is maintained and up- dated on a daily basis. The major objectives of the MGMD were (i) to provide a...
متن کاملThe Human PAX6 Mutation Database
The Human PAX6 Mutation Database contains details of 94 mutations of the PAX6 gene. A Microsoft Access program is used by the Curator to store, update and search the database entries. Mutations can be entered directly by the Curator, or imported from submissions made via the World Wide Web. The PAX6 Mutation Database web page at URL http://www.hgu.mrc.ac.uk/Softdata/PAX6/ provides information a...
متن کاملThe Iranian human mutation database.
Introduction ore than 20 years have elapsed since the first single base pair substitution underlying an inherited disease in humans was characterized at the DNA level. Disease-associated gene lesions are currently collected and publicized by the Human Gene Mutation Database (HGMD) in Cardiff, locusspecific mutation databases, and to some extent by the Genome Database (GDB) and Online Mendelian ...
متن کاملKMDB : Keio Mutation Database for Human Disease Gene
KMDB has been constructed on a database software MutationView [1] which was designed to compile various mutation data as a distributed database and to provide graphical presentation of data analysis. To date, we constructed five separate KMDBs for eye, heart, ear, brain and cancer in which a total of 1593 entries of mutations are found for 38 different genes which are involved in 35 distinct di...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2005
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.9375