The DOI matches its Crossref record.
The Metabolic Basis of Inherited Disease.
Overview
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Citations
Cited by
An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy
Fu, Y. H., Pizzuti, A., Fenwick, R. G., King, J., Rajnarayan, S., Dunne, P. W., Dubel, J., Nasser, G. A., Ashizawa, T., de Jong, P., et al. (1992) · Science · doi:10.1126/science.1546326 · Cited by 1,455
Weiss, M. J., Henthorn, P. S., Lafferty, M. A., Slaughter, C., Raducha, M., & Harris, H. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.19.7182 · Cited by 398
Weiss, M. J., Cole, D. E., Ray, K., Whyte, M. P., Lafferty, M. A., Mulivor, R. A., & Harris, H. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.20.7666 · Cited by 340
The CFTR 3849+10kbC->T and 2789+5G->A alleles are associated with a mild CF phenotype
Duguépéroux, I., & De Braekeleer, M. (2005) · European Respiratory Journal · doi:10.1183/09031936.05.10100004 · Cited by 59
Metadata
- Venue
- Annals of Internal Medicine
- Publisher
- American College of Physicians
- Published
- 1991-05-01
- Volume
- 114
- Issue
- 9
- Pages
- 816-816
- ISSN
- 0003-4819 (ISSN-L)
- 1539-3704
- OpenAlex
- W1716232538
- Cited by
- 398
- References
- 0
- FWCI
- 13.42
- 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.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: The Metabolic Basis of Inherited Disease. https://app.cochat.ai/papers/10.7326/0003-4819-114-9-816_3
- The paper
- The Metabolic Basis of Inherited Disease. (1991). Annals of Internal Medicine. https://doi.org/10.7326/0003-4819-114-9-816_3
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.
