The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
Open accessAbstract
Additional mutations in the cystic fibrosis (CF) gene were identified in the regions corresponding to the two putative nucleotide (ATP)-binding folds (NBFs) of the predicted polypeptide. The patient cohort included 46 Canadian CF families with well-characterized DNA marker haplotypes spanning the disease locus and several other families from Israel. Eleven mutations were found in the first NBF, 2 were found in the second NBF, but none was found in the R-domain. Seven of the mutations were of the missense type affecting some of the highly conserved amino acid residues in the first NBF; 3 were nonsense mutations; 2 would probably affect mRNA splicing; 2 corresponded to small deletions, including another 3-base-pair deletion different from the major mutation (delta F508), which could account for 70% of the CF chromosomes in the population. Nine of these mutations accounted for 12 of the 31 non-delta F508 CF chromosomes in the Canadian families. The highly heterogeneous nature of the remaining CF mutations provides important insights into the structure and function of the protein, but it also suggests that DNA-based genetic screening for CF carrier status will not be straightforward.
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Citations
Cites
Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase
Saiki, R. K., Gelfand, D. H., Stoffel, S., Scharf, S. J., Higuchi, R., Horn, G. T., Mullis, K. B., & Erlich, H. A. (1988) · Science · doi:10.1126/science.2448875 · Cited by 17,719
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
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
Self-citationIdentification 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
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Cited by
A functional CFTR assay using primary cystic fibrosis intestinal organoids
Dekkers, J. F., Wiegerinck, C. L., de Jonge, H. R., Bronsveld, I., Janssens, H. M., de Winter-de Groot, K. M., Brandsma, A. M., de Jong, N. W. M., Bijvelds, M. J. C., Scholte, B. J., et al. (2013) · Nature Medicine · doi:10.1038/nm.3201 · Cited by 999
Genomic 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-citationA mutation in CFTR produces different phenotypes depending on chromosomal background
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., et al. (1993) · Nature Genetics · doi:10.1038/ng1193-274 · Cited by 441
Mutational analysis of patients with X-linked adrenoleukodystrophy
Kok, F., Neumann, S., Sarde, C.-O., Zheng, S., Wu, K.-H., Wei, H.-M., Bergin, J., Watkins, P. A., Gould, S., Sack, G., et al. (1995) · Human Mutation · doi:10.1002/humu.1380060203 · Cited by 103
(1993) · Europe PMC (PubMed Central) · Cited by 59
Metadata
- Authors
- Kerem, B. S., Zielenski, J., Markiewicz, D., Bozon, D., Gazit, E., Yahav, J., Kennedy, D., Riordan, J. R., Collins, F. S., & Rommens, J. M.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1990-11
- Volume
- 87
- Issue
- 21
- Pages
- 8447-8451
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1983488739
- Cited by
- 421
- References
- 4
- FWCI
- 80.12
- Type
- journal article
- Language
- en
- Open access
- green
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- Kerem, B. S., Zielenski, J., Markiewicz, D., Bozon, D., Gazit, E., Yahav, J., Kennedy, D., Riordan, J. R., Collins, F. S., & Rommens, J. M. (1990). Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.87.21.8447
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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