The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.
Open accessAbstract
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. Clinical severity is variable, ranging from death in utero (due to severe rickets) to pathologic fractures first presenting in adult life. Affected siblings, however, are phenotypically similar. Severe forms of the disease are inherited in an autosomal recessive fashion; heterozygotes often show reduced serum ALP activity. The specific gene defects in hypophosphatasia are unknown but are thought to occur either at the L/B/K ALP locus or within another gene that regulates L/B/K ALP expression. We used the polymerase chain reaction to examine L/B/K ALP cDNA from a patient with a perinatal (lethal) form of the disease. We observed a guanine-to-adenine transition in nucleotide 711 of the cDNA that converts alanine-162 of the mature enzyme to threonine. The affected individual, whose parents are second cousins, is homozygous for the mutant allele. Introduction of this mutation into an otherwise normal cDNA by site-directed mutagenesis abolishes the expression of active enzyme, demonstrating that a defect in the L/B/K ALP gene results in hypophosphatasia and that the enzyme is, therefore, essential for normal skeletal mineralization.
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Cites
DNA sequencing with chain-terminating inhibitors
Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572
Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
Chirgwin, J. M., Przybyla, A. E., MacDonald, R. J., & Rutter, W. J. (1979) · Biochemistry · doi:10.1021/bi00591a005 · Cited by 21,725
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
A new technique for the assay of infectivity of human adenovirus 5 DNA
Graham, F. L., & van der Eb, A. J. (1973) · Virology · doi:10.1016/0042-6822(73)90341-3 · Cited by 9,451
The Metabolic Basis of Inherited Disease.
(1983) · Annals of Internal Medicine · doi:10.7326/0003-4819-99-3-425_3 · Cited by 2,687
Strategies for multilocus linkage analysis in humans.
Lathrop, G. M., Lalouel, J. M., Julier, C., & Ott, J. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.11.3443 · Cited by 2,559
Molecular basis of base substitution hotspots in Escherichia coli
Coulondre, C., Miller, J. H., Farabaugh, P. J., & Gilbert, W. (1978) · Nature · doi:10.1038/274775a0 · Cited by 1,193
An Improved Method for Prenatal Diagnosis of Genetic Diseases by Analysis of Amplified DNA Sequences
Kogan, S. C., Doherty, M., & Gitschier, J. (1987) · New England Journal of Medicine · doi:10.1056/nejm198710153171603 · Cited by 797
Wood, W. I., Gitschier, J., Lasky, L. A., & Lawn, R. M. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.6.1585 · Cited by 790
The Metabolic Basis of Inherited Disease.
(1991) · Annals of Internal Medicine · doi:10.7326/0003-4819-114-9-816_3 · Cited by 398
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Paolacci, S., Kiani, A. K., Manara, E., Beccari, T., Ceccarini, M. R., Stuppia, L., Chiurazzi, P., Dalla Ragione, L., & Bertelli, M. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1244 · Cited by 47
Metadata
- Authors
- Weiss, M. J., Cole, D. E., Ray, K., Whyte, M. P., Lafferty, M. A., Mulivor, R. A., & Harris, H.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1988-10
- Volume
- 85
- Issue
- 20
- Pages
- 7666-7669
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1973772928
- Cited by
- 340
- References
- 21
- FWCI
- 8.92
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. https://app.cochat.ai/papers/10.1073/pnas.85.20.7666
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- Weiss, M. J., Cole, D. E., Ray, K., Whyte, M. P., Lafferty, M. A., Mulivor, R. A., & Harris, H. (1988). A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.85.20.7666
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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).
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