The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
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Cites
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Self-citationPolymorphic DNA region adjacent to the 5' end of the human insulin gene.
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Karet, F. E., Finberg, K. E., Nelson, R. D., Nayir, A., Mocan, H., Sanjad, S. A., Rodriguez-Soriano, J., Santos, F., Cremers, C. W. R. J., Pietro, A. D., et al. (1999) · Nature Genetics · doi:10.1038/5022 · Cited by 695
Self-citationFrattini, A., Orchard, P. J., Sobacchi, C., Giliani, S., Abinun, M., Mattsson, J. P., Keeling, D. J., Andersson, A.-K., Wallbrandt, P., Zecca, L., et al. (2000) · Nature Genetics · doi:10.1038/77131 · Cited by 674
Retention and retrieval in the endoplasmic reticulum and the Golgi apparatus
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Mansfield, T. A., Simon, D. B., Farfel, Z., Bia, M., Tucci, J. R., Lebe, M., Gutkin, M., Vialettes, B., Christofilis, M. A., Kauppinen-Makelin, R., et al. (1997) · Nature Genetics · doi:10.1038/ng0697-202 · Cited by 214
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Immunoaffinity purification and characterization of vacuolar H+ATPase from bovine kidney.
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Site-directed Mutagenesis of the 100-kDa Subunit (Vph1p) of the Yeast Vacuolar (H+)-ATPase
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Cited by
The vacuolar (H+)-ATPases — nature's most versatile proton pumps
Nishi, T., & Forgac, M. (2002) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm729 · Cited by 1,197
Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man
Kornak, U., Kasper, D., Bösl, M. R., Kaiser, E., Schweizer, M., Schulz, A., Friedrich, W., Delling, G., & Jentsch, T. J. (2001) · Cell · doi:10.1016/s0092-8674(01)00206-9 · Cited by 995
Regulation and Isoform Function of the V-ATPases
Toei, M., Saum, R., & Forgac, M. (2010) · Biochemistry · doi:10.1021/bi100397s · Cited by 391
Metadata
- Authors
- Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., & Karet, F. E.
- Venue
- Nature Genetics
- Published
- 2000-09
- Volume
- 26
- Issue
- 1
- Pages
- 71-75
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1551014578
- Cited by
- 425
- References
- 20
- FWCI
- 5.97
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. https://app.cochat.ai/papers/10.1038/79208
- The paper
- Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., & Karet, F. E. (2000). Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nature Genetics. https://doi.org/10.1038/79208
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.
