SCOPUS 정보 검색 플랫폼

Volumn 15, Issue 1, 2000, Pages 45-51

Human Gene Mutation Database - A biomedical information and research resource

(7) Krawczak, Michael a Ball, Edward V a Fenton, Iain a Stenson, Peter D a Abeysinghe, Shaun a Thomas, Nick a Cooper, David N a

a CARDIFF UNIVERSITY (United Kingdom)

Author keywords

Association; Electronic publication; HGMD; Inherited disease; MDI; Mutation database; Polymorphism

Indexed keywords

ARTICLE; BASE PAIRING; DATA BASE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INFORMATION SYSTEM; INTERNET; MEDICAL INFORMATION; PRIORITY JOURNAL; QUALITY CONTROL;

DATABASES, FACTUAL; HUMANS; INFORMATION SERVICES; INTERNET; MUTATION; ORGANIZATIONAL POLICY; POLYMORPHISM, GENETIC; PUBLISHING; RESEARCH;

EID: 0033987778 PISSN: 10597794 EISSN: None Source Type: Journal
DOI: 10.1002/(SICI)1098-1004(200001)15:1<45::AID-HUMU10>3.0.CO;2-T Document Type: Article

Times cited : (217)

References (11)

1
- 0018764020
- β0 thalassemia, a nonsense mutation in man
- Chang JC, Kan YW. 1979. β0 thalassemia, a nonsense mutation in man. Proc Natl Acad Sci USA 76:2886-2889.
- (1979) Proc Natl Acad Sci USA , vol.76 , pp. 2886-2889
- Chang, J.C.¹ Kan, Y.W.²

2
- 0025364861
- The mutational spectrum of single base-pair substitutions causing human genetic disease: Patterns and predictions
- Cooper DN, Krawczak M. 1990. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet 85:55-74.
- (1990) Hum Genet , vol.85 , pp. 55-74
- Cooper, D.N.¹ Krawczak, M.²

3
- 0025744705
- Mechanism of insertional mutagenesis in human genes causing genetic disease
- Cooper DN, Krawczak M. 1991. Mechanism of insertional mutagenesis in human genes causing genetic disease. Hum Genet 87:409-415.
- (1991) Hum Genet , vol.87 , pp. 409-415
- Cooper, D.N.¹ Krawczak, M.²

4
- 0003681398
- Oxford: BIOS Scientific Publishers
- Cooper DN, Krawczak M. 1993. Human gene mutation. Oxford: BIOS Scientific Publishers.
- (1993) Human Gene Mutation
- Cooper, D.N.¹ Krawczak, M.²

5
- 0030294384
- The human gene mutation database
- Cooper DN, Krawczak M. 1996. The human gene mutation database. Hum Genet 98:629.
- (1996) Hum Genet , vol.98 , pp. 629
- Cooper, D.N.¹ Krawczak, M.²

6
- 0033986101
- Future vision of the GDB human genome database
- Cuticchia AJ. 2000. Future vision of the GDB Human Genome Database. Hum Mutat 15:62-67.
- (2000) Hum Mutat , vol.15 , pp. 62-67
- Cuticchia, A.J.¹

7
- 0033985936
- Online Mendelian inheritance in man (OMIM)
- Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA. 2000. Online Mendelian Inheritance in Man (OMIM). Hum Mutat 15:57-61.
- (2000) Hum Mutat , vol.15 , pp. 57-61
- Hamosh, A.¹ Scott, A.F.² Amberger, J.³ Valle, D.⁴ McKusick, V.A.⁵

8
- 0025762012
- Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
- Krawczak M, Cooper DN. 1991. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425-441.
- (1991) Hum Genet , vol.86 , pp. 425-441
- Krawczak, M.¹ Cooper, D.N.²

9
- 0029654369
- Core database
- Krawczak M, Cooper DN. 1995. Core database. Nature 374:402.
- (1995) Nature , vol.374 , pp. 402
- Krawczak, M.¹ Cooper, D.N.²

10
- 0031092272
- The human gene mutation database
- Krawczak M, Cooper DN. 1997. The human gene mutation database. Trends Genet 13:121-122.
- (1997) Trends Genet , vol.13 , pp. 121-122
- Krawczak, M.¹ Cooper, D.N.²

11
- 0026794668
- The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
- Krawczak M, Reiss J, Cooper DN. 1992. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54.
- (1992) Hum Genet , vol.90 , pp. 41-54
- Krawczak, M.¹ Reiss, J.² Cooper, D.N.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.