The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.
A mutation in CFTR produces different phenotypes depending on chromosomal background
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Citations
Cites
Identification of the Cystic Fibrosis Gene: Genetic Analysis
Kerem, B.-S., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., & Tsui, L.-C. (1989) · Science · doi:10.1126/science.2570460 · Cited by 4,142
Self-citationThe Metabolic Basis of Inherited Disease
(1990) · Annals of Internal Medicine · doi:10.7326/0003-4819-112-5-389_2 · Cited by 3,983
Kerem, E., Corey, M., Kerem, B.-S., Rommens, J., Markiewicz, D., Levison, H., Tsui, L.-C., & Durie, P. (1990) · New England Journal of Medicine · doi:10.1056/nejm199011293232203 · Cited by 728
Self-citationGenomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Zielenski, J., Rozmahel, R., Bozon, D., Kerem, B.-S., Grzelczak, Z., Riordan, J. R., Rommens, J., & Tsui, L.-C. (1991) · Genomics · doi:10.1016/0888-7543(91)90503-7 · Cited by 549
Self-citationChu, C.-S., Trapnell, B. C., Curristin, S., Cutting, G. R., & Crystal, R. G. (1993) · Nature Genetics · doi:10.1038/ng0293-151 · Cited by 523
Self-citationCongenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis
Anguiano, A. (1992) · JAMA · doi:10.1001/jama.267.13.1794 · Cited by 498
Mutations in CFTR associated with mild-disease-form CI- channels with altered pore properties
Sheppard, D. N., Rich, D. P., Ostedgaard, L. S., Gregory, R. J., Smith, A. E., & Welsh, M. J. (1993) · Nature · doi:10.1038/362160a0 · Cited by 467
Genetic determination of exocrine pancreatic function in cystic fibrosis.
Kristidis, P., Bozon, D., Corey, M. L., Markiewicz, D., Rommens, J. M., Tsui, L.-C., & Durie, P. R. (1992) · PubMed · Cited by 438
Self-citationKerem, B. S., Zielenski, J., Markiewicz, D., Bozon, D., Gazit, E., Yahav, J., Kennedy, D., Riordan, J. R., Collins, F. S., & Rommens, J. M. (1990) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.87.21.8447 · Cited by 421
The spectrum of cystic fibrosis mutations
Tsui, L.-C. (1992) · Trends in Genetics · doi:10.1016/0168-9525(92)90301-j · Cited by 404
Self-citation
Cited by
Pre-mRNA splicing and human disease
Faustino, N. A., & Cooper, T. A. (2003) · Genes & Development · doi:10.1101/gad.1048803 · Cited by 1,256
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation
Farrell, P. M., White, T. B., Ren, C. L., Hempstead, S. E., Accurso, F., Derichs, N., Howenstine, M., McColley, S. A., Rock, M., Rosenfeld, M., et al. (2017) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2016.09.064 · Cited by 953
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
Castellani, C., Cuppens, H., Macek, M., Cassiman, J. J., Kerem, E., Durie, P., Tullis, E., Assael, B. M., Bombieri, C., Brown, A., et al. (2008) · Journal of Cystic Fibrosis · doi:10.1016/j.jcf.2008.03.009 · Cited by 601
Self-citationLaboratory standards and guidelines for population-based cystic fibrosis carrier screening
Grody, W. W., Cutting, G. R., Klinger, K. W., Richards, C. S., Watson, M. S., & Desnick, R. J. (2001) · Genetics in Medicine · doi:10.1097/00125817-200103000-00010 · Cited by 456
Self-citationRen, C. L., Morgan, R. L., Oermann, C., Resnick, H. E., Brady, C., Campbell, A., DeNagel, R., Guill, M., Hoag, J., Lipton, A., et al. (2018) · Annals of the American Thoracic Society · doi:10.1513/annalsats.201707-539ot · Cited by 74
Metadata
- Authors
- Kiesewetter, S., Macek, M., Davis, C., Curristin, S. M., Chu, C.-S., Graham, C., Shrimpton, A. E., Cashman, S. M., Tsui, L.-C., Mickle, J., Amos, J., Highsmith, W. E., Shuber, A., Witt, D. R., Crystal, R. G., & Cutting, G. R.
- Venue
- Nature Genetics
- Published
- 1993-11
- Volume
- 5
- Issue
- 3
- Pages
- 274-278
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2039529907
- Cited by
- 441
- References
- 24
- FWCI
- 21.13
- Type
- journal article
- Language
- en
- Open access
- closed
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- This page
- CoChat. (2026). Citation check: A mutation in CFTR produces different phenotypes depending on chromosomal background. https://app.cochat.ai/papers/10.1038/ng1193-274
- The paper
- Kiesewetter, S., Macek, M., Davis, C., Curristin, S. M., Chu, C.-S., Graham, C., Shrimpton, A. E., Cashman, S. M., Tsui, L.-C., Mickle, J., Amos, J., Highsmith, W. E., Shuber, A., Witt, D. R., Crystal, R. G., & Cutting, G. R. (1993). A mutation in CFTR produces different phenotypes depending on chromosomal background. Nature Genetics. https://doi.org/10.1038/ng1193-274
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.
