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 : (214)

References (11)

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2
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- The mutational spectrum of single base-pair substitutions causing human genetic disease: Patterns and predictions
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- Cooper, D.N.¹ Krawczak, M.²

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- Cooper, D.N.¹ Krawczak, M.²

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

5
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- The human gene mutation database
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- Cooper, D.N.¹ Krawczak, M.²

6
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- 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
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- 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
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- 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
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- Krawczak, M.¹ Cooper, D.N.²

10
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- The human gene mutation database
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11
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- 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.