The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
The Molecular Basis of the Sparse Fur Mouse Mutation
Abstract
The ornithine transcarbamylase-deficient sparse fur mouse is an excellent model to study the most common human urea cycle disorder. The mutation has been well characterized by both biochemical and enzymological methods, but its exact nature has not been revealed. A single base substitution in the complementary DNA for ornithine transcarbamylase from the sparse fur mouse has been identified by means of a combination of two recently described techniques for rapid mutational analysis. This strategy is simpler than conventional complementary DNA library construction, screening, and sequencing, which has often been used to find a new mutation. The ornithine transcarbamylase gene in the sparse fur mouse contains a C to A transversion that alters a histidine residue to an asparagine residue at amino acid 117.
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Saiki, R. K., Scharf, S., Faloona, F., Mullis, K. B., Horn, G. T., Erlich, H. A., & Arnheim, N. (1985) · Science · doi:10.1126/science.2999980 · Cited by 8,956
Cited by
Cloning of cDNAs for Fanconi's anaemia by functional complementation
Strathdee, C. A., Gavish, H., Shannon, W. R., & Buchwald, M. (1992) · Nature · doi:10.1038/356763a0 · Cited by 624
Kazuo, M., & Sumio, S. (1994) · Gene · doi:10.1016/0378-1119(94)90802-8 · Cited by 567
Kawasaki, E. S. (1990) · PCR Protocols · doi:10.1016/b978-0-12-372180-8.50007-x · Cited by 474
The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex
Curnow, K. M., Tusie-Luna, M.-T., Pascoe, L., Natarajan, R., Gu, J.-L., Nadler, J. L., & White, P. C. (1991) · Molecular Endocrinology · doi:10.1210/mend-5-10-1513 · Cited by 362
Grompe, M., al-Dhalimy, M., Finegold, M., Ou, C. N., Burlingame, T., Kennaway, N. G., & Soriano, P. (1993) · Genes & Development · doi:10.1101/gad.7.12a.2298 · Cited by 355
“1991); OTC (Veres et al. 1987); NMO-1 (Ruppert et al.”
Metadata
- Authors
- Veres, G., Gibbs, R. A., Scherer, S. E., & Caskey, C. T.
- Venue
- Science
- Published
- 1987-07-24
- Volume
- 237
- Issue
- 4813
- Pages
- 415-417
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1976248874
- Cited by
- 248
- References
- 1
- FWCI
- 14.47
- Type
- journal article
- Language
- en
- Open access
- closed
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- Veres, G., Gibbs, R. A., Scherer, S. E., & Caskey, C. T. (1987). The Molecular Basis of the Sparse Fur Mouse Mutation. Science. https://doi.org/10.1126/science.3603027
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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.
