The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment
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Citations
Cites
Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
Riordan, J. R., Rommens, J. M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J.-L., et al. (1989) · Science · doi:10.1126/science.2475911 · Cited by 7,418
Frameshift Mutations and the Genetic Code
Streisinger, G., Okada, Y., Emrich, J., Newton, J., Tsugita, A., Terzaghi, E., & Inouye, M. (1966) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.1966.031.01.014 · Cited by 1,400 · cited 1×
“Models to account for this type of lesion have usually been either replication or recombinationbased (Streisinger et al. 1966; Ripley 1982; Glickman and Ripley 1984) and have invoked direct repeats and/or palindromes (inverted repeats) as determinants of secondary structures that act as deletion intermediates.”
BackgroundMisalignment-mediated DNA synthesis errors
Kunkel, T. A. (1990) · Biochemistry · doi:10.1021/bi00487a001 · Cited by 299
Cited by
Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1
Bassett, J. H. D., Forbes, S. A., Pannett, A. A. J., Lloyd, S. E., Christie, P. T., Wooding, C., Harding, B., Besser, G. M., Edwards, C. R., Monson, J. P., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301729 · Cited by 444
Interferon-γ and interleukin-12 pathway defects and human disease
Dorman, S. E., & Holland, S. M. (2000) · Cytokine & Growth Factor Reviews · doi:10.1016/s1359-6101(00)00010-1 · Cited by 336
Human Gene Mutation Database?A biomedical information and research resource
Krawczak, M., Ball, E. V., Fenton, I., Stenson, P. D., Abeysinghe, S., Thomas, N., & Cooper, D. N. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1<45::aid-humu10>3.0.co;2-t · Cited by 273
Self-citationKamp, C. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.17.2563 · Cited by 222
Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction
Gross, M., Hanenberg, H., Lobitz, S., Friedl, R., Herterich, S., Dietrich, R., Gruhn, B., Schindler, D., & Hoehn, H. (2002) · Cytogenetic and Genome Research · doi:10.1159/000069805 · Cited by 161
Metadata
- Authors
- Krawczak, M., & Cooper, D.
- Venue
- Human Genetics
- Published
- 1991-03
- Volume
- 86
- Issue
- 5
- Pages
- 425-41
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- OpenAlex
- W2045718795
- Cited by
- 479
- References
- 3
- FWCI
- 8.37
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
