Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
10.1038/ng1094-195
Crossref journal-article
Springer Science and Business Media LLC
Nature Genetics (297)
Bibliography

Kaler, S. G., Gallo, L. K., Proud, V. K., Percy, A. K., Mark, Y., Segal, N. A., Goldstein, D. S., Holmes, C. S., & Gahl, W. A. (1994). Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genetics, 8(2), 195–202.

Authors 9
  1. Stephen G. Kaler (first)
  2. Linda K. Gallo (additional)
  3. Virginia K. Proud (additional)
  4. Alan K. Percy (additional)
  5. Yvonne Mark (additional)
  6. Neil A. Segal (additional)
  7. David S. Goldstein (additional)
  8. Courtney S. Holmes (additional)
  9. William A. Gahl (additional)
References 29 Referenced 210
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  2. Vulpe, C., Levinson, B., Whitney, S., Packman, S. & Gitschier, J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet. 3, 7–13 (1993). (10.1038/ng0193-7) / Nature Genet. by C Vulpe (1993)
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  4. Mercer, J.F.B. et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet. 3, 20–25 (1993). (10.1038/ng0193-20) / Nature Genet. by JFB Mercer (1993)
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Dates
Type When
Created 21 years ago (Aug. 18, 2004, 5:10 p.m.)
Deposited 2 years, 3 months ago (May 18, 2023, 5:06 p.m.)
Indexed 4 weeks ago (July 26, 2025, 5:18 a.m.)
Issued 30 years, 10 months ago (Oct. 1, 1994)
Published 30 years, 10 months ago (Oct. 1, 1994)
Published Print 30 years, 10 months ago (Oct. 1, 1994)
Funders 0

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@article{Kaler_1994, title={Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus}, volume={8}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng1094-195}, DOI={10.1038/ng1094-195}, number={2}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Kaler, Stephen G. and Gallo, Linda K. and Proud, Virginia K. and Percy, Alan K. and Mark, Yvonne and Segal, Neil A. and Goldstein, David S. and Holmes, Courtney S. and Gahl, William A.}, year={1994}, month=oct, pages={195–202} }