KMD: Korean mutation database for genes related to diseases

Human Mutation

Volumn 33, Issue 4, 2012, Pages

  Park, Mi Hyun ^a   Koo, Soo Kyung ^a   Lee, Jin Sung ^b   Yoo, Han Wook ^c   Kim, Jong Won ^d   Cheong, Hae Il ^e   Park, Hyun Young ^a  

^a Korea National Institute of Health   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

^c University of Ulsan College of Medicine   (South Korea)

^d Sungkyunkwan University School of Medicine   (South Korea)

^e Seoul National University Children's Hospital   (South Korea)

Author keywords

Country specific collection; Database; Korean

Indexed keywords

MYOTONIC DYSTROPHY PROTEIN KINASE; NEUROFIBROMIN; POLYCYCLIC AROMATIC HYDROCARBON; WILSON DISEASE PROTEIN;

ARTICLE; DATA BASE; GENE; GENE MUTATION; GENETIC DISORDER; GENETIC TRANSCRIPTION; HEALTH CARE PERSONNEL; HUMAN; INFORMATION PROCESSING; KOREA; LABORATORY; MARFAN SYNDROME; MYOTONIC DYSTROPHY; NEUROFIBROMATOSIS; PHENYLKETONURIA; PRIORITY JOURNAL; PUBLICATION; SCIENTIST; SINGLE NUCLEOTIDE POLYMORPHISM; WILSON DISEASE;

ASIAN CONTINENTAL ANCESTRY GROUP; DATABASES, GENETIC; HUMANS; KOREA; MUTATION;

EID: 84863260899     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22039     Document Type: Article

References (9)

1. Al-Gazali L, Ali BR. 2010. Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). Hum Mutat 31:505-520.
2. Cotton RG, Auerbach AD, Axton M, Barash CI, Berkovic SF, Brookes AJ, Burn J, Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M, Macrae FA, Maglott D, Möslein G, Povey S, Ramesar RS, Richards CS, Seminara D, Smith TD, Sobrido MJ, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsunomiya J, Watson M. 2008. GENETICS. The human variome project. Science 322:861-862.
3. Cotton RG, Auerbach AD, Brown AF, Carrera P, Christodoulou J, Claustres M, Compton J, Cox DW, De Baere E, den Dunnen JT, Greenblatt M, Fujiwara M, Hilbert P, Jani A, Lehvaslaiho H, Nebert DW, Verma I, Vihinen M; Members of the Human Genome Variation Society; Human Variome Project Diagnostic Laboratory Working Group. 2007. A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases. Hum Mutat 28:931-932
4. Friedman JM. 1999. Epidemiology of neurofibromatosis type. Am J Med Genet 89:1-6.
5. Horaitis O, Talbot CC Jr, Phommarinh M, Phillips KM, Cotton RG. 2007. A database of locus-specific databases. Nat Genet 39:425.
6. Knoppers BM, Laberge CM. 2000. Ethical guideposts for allelic variation databases. Hum Mutat 15:30-35.
7. Rosenberg NA, Pritchard JK, Weber JL, Cann JM, Kidd KK, Zhivotovsky LA, Feldman MA. 2002. Genetic structure of human populations. Science 98:2381-2385.
8. Tan E, Loh M, Chuon D, Lim YP. 2006. Singapore human mutation/polymorphism database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies. Hum Mutat 27:232-235.
9. Voelkerding KV, Dames SA, Durtschi JD. 2009. Next-generation sequencing: from basic research to diagnostics. Clin Chem 55:641-658.