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Katarakt-Mikrokornea-Syndrom (German Wikipedia)

Analysis of information sources in references of the Wikipedia article "Katarakt-Mikrokornea-Syndrom" in German language version.

refsWebsite
Global rank German rank
4nih.gov
4th place
7th place
4omim.org
4,380th place
781st place
3doi.org
2nd place
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1orpha.net
3,537th place
429th place

doi.org

  • M. W. FRIEDMAN, E. S. WRIGHT: Hereditary microcornea and cataract in five generations. In: American journal of ophthalmology. Band 35, Nummer 7, Juli 1952, S. 1017–1021, doi:10.1016/0002-9394(52)90567-9, PMID 14933553.
  • P. Chen, Y. Dai, X. Wu, Y. Wang, S. Sun, J. Xiao, Q. Zhang, L. Guan, X. Zhao, X. Hao, R. Wu, L. Xie: Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome. In: Investigative ophthalmology & visual science. Band 55, Nummer 12, November 2014, S. 8031–8043, doi:10.1167/iovs.14-14098, PMID 25406294.
  • S. Wang, W. J. Zhao, H. Liu, H. Gong, Y. B. Yan: Increasing βB1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R. In: Biochimica et Biophysica Acta. Band 1832, Nummer 2, Februar 2013, S. 302–311, doi:10.1016/j.bbadis.2012.11.005, PMID 23159606.

nih.gov

ncbi.nlm.nih.gov

  • M. W. FRIEDMAN, E. S. WRIGHT: Hereditary microcornea and cataract in five generations. In: American journal of ophthalmology. Band 35, Nummer 7, Juli 1952, S. 1017–1021, doi:10.1016/0002-9394(52)90567-9, PMID 14933553.
  • P. Chen, Y. Dai, X. Wu, Y. Wang, S. Sun, J. Xiao, Q. Zhang, L. Guan, X. Zhao, X. Hao, R. Wu, L. Xie: Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome. In: Investigative ophthalmology & visual science. Band 55, Nummer 12, November 2014, S. 8031–8043, doi:10.1167/iovs.14-14098, PMID 25406294.
  • S. Wang, W. J. Zhao, H. Liu, H. Gong, Y. B. Yan: Increasing βB1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R. In: Biochimica et Biophysica Acta. Band 1832, Nummer 2, Februar 2013, S. 302–311, doi:10.1016/j.bbadis.2012.11.005, PMID 23159606.
  • L. Hansen, H. Eiberg, T. Rosenberg: Novel MAF mutation in a family with congenital cataract-microcornea syndrome. In: Molecular vision. Band 13, Oktober 2007, S. 2019–2022, PMID 17982426.

omim.org

orpha.net