The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17
Abstract
Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eventual identification and cloning of the defective gene responsible for this disorder.
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Citations
Cites
A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
Friend, S. H., Bernards, R., Rogelj, S., Weinberg, R. A., Rapaport, J. M., Albert, D. M., & Dryja, T. P. (1986) · Nature · doi:10.1038/323643a0 · Cited by 2,948
Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., & Orkin, S. H. (1986) · Nature · doi:10.1038/322032a0 · Cited by 833
Cited by
The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins.
Ballester, R., Marchuk, D., Boguski, M., Saulino, A., Letcher, R., Wigler, M., & Collins, F. (1990) · Cell · doi:10.1016/0092-8674(90)90151-4 · Cited by 847
Autocrine and paracrine regulation of melanocytes in human skin and in pigmentary disorders
Imokawa, G. (2004) · Pigment Cell Research · doi:10.1111/j.1600-0749.2003.00126.x · Cited by 369
Localization of a human T-cell-specific gene, RANTES (D17S136E), to chromosome 17q11.2-q12
Donlon, T. A., Krensky, A. M., Wallace, M. R., Collins, F. S., Lovett, M., & Clayberger, C. (1990) · Genomics · doi:10.1016/0888-7543(90)90485-d · Cited by 78
Metadata
- Authors
- Barker, D., Wright, E., Nguyen, K., Cannon, L., Fain, P., Goldgar, D., Bishop, D. T., Carey, J., Baty, B., Kivlin, J., Willard, H., Waye, J. S., Greig, G., Leinwand, L., Nakamura, Y., O'Connell, P., Leppert, M., Lalouel, J.-M., White, R., & Skolnick, M.
- Venue
- Science
- Published
- 1987-05-29
- Volume
- 236
- Issue
- 4805
- Pages
- 1100-1102
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1990880437
- Cited by
- 695
- References
- 2
- FWCI
- 66.56
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17. https://app.cochat.ai/papers/10.1126/science.3107130
- The paper
- Barker, D., Wright, E., Nguyen, K., Cannon, L., Fain, P., Goldgar, D., Bishop, D. T., Carey, J., Baty, B., Kivlin, J., Willard, H., Waye, J. S., Greig, G., Leinwand, L., Nakamura, Y., O'Connell, P., Leppert, M., Lalouel, J.-M., White, R., & Skolnick, M. (1987). Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17. Science. https://doi.org/10.1126/science.3107130
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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.
