Literature DB >> 11125127

The KMDB/MutationView: a mutation database for human disease genes.

S Minoshima1, S Mitsuyama, M Ohtsubo, T Kawamura, S Ito, S Shibamoto, F Ito, N Shimizu.   

Abstract

The KMDB/MutationView is a graphical database of mutations in human disease-causing genes and its current version consists of nine category-based sub-databases including diseases of eye, heart, ear, brain, cancer, syndrome, autoimmunity, muscle and blood. The KMDB/MutationView stores mutation data of 97 genes involved in 87 different disease and is accessible through http://mutview.dmb.med. keio.ac.jp.

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Year:  2001        PMID： 11125127      PMCID： PMC29856          DOI： 10.1093/nar/29.1.327

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  2 in total

1.  Keio Mutation Database (KMDB) for human disease gene mutations.

Authors:  S Minoshima; S Mitsuyama; S Ohno; T Kawamura; N Shimizu
Journal:  Nucleic Acids Res       Date:  2000-01-01       Impact factor: 16.971

2.  Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.

Authors:  T Kitada; S Asakawa; N Hattori; H Matsumine; Y Yamamura; S Minoshima; M Yokochi; Y Mizuno; N Shimizu
Journal:  Nature       Date:  1998-04-09       Impact factor: 49.962
  2 in total
  4 in total

1.  Recommendations for locus-specific databases and their curation.

Authors:  R G H Cotton; A D Auerbach; J S Beckmann; O O Blumenfeld; A J Brookes; A F Brown; P Carrera; D W Cox; B Gottlieb; M S Greenblatt; P Hilbert; H Lehvaslaiho; P Liang; S Marsh; D W Nebert; S Povey; S Rossetti; C R Scriver; M Summar; D R Tolan; I C Verma; M Vihinen; J T den Dunnen
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

2.  Three novel mutations of the PAX6 gene in Japanese aniridia patients.

Authors:  Toshio Kawano; Chunxia Wang; Yoshihiro Hotta; Miho Sato; Emi Iwata-Amano; Akiko Hikoya; Naoya Fujita; Norihisa Koyama; Shoichiro Shirai; Noriyuki Azuma; Masafumi Ohtsubo; Nobuyoshi Shimizu; Shinsei Minoshima
Journal:  J Hum Genet       Date:  2007-06-14       Impact factor: 3.172

3.  Hyperlink Management System and ID Converter System: enabling maintenance-free hyperlinks among major biological databases.

Authors:  Tadashi Imanishi; Hajime Nakaoka
Journal:  Nucleic Acids Res       Date:  2009-05-19       Impact factor: 16.971

4.  Distribution and effects of nonsense polymorphisms in human genes.

Authors:  Yumi Yamaguchi-Kabata; Makoto K Shimada; Yosuke Hayakawa; Shinsei Minoshima; Ranajit Chakraborty; Takashi Gojobori; Tadashi Imanishi
Journal:  PLoS One       Date:  2008-10-14       Impact factor: 3.240
  4 in total

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