Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

PURPOSE: We aimed to assess the biological and clinical significance of the human cysteine protease inhibitor cystatin M/E, encoded by the CTS6 gene, in diseases of human hair and skin. METHODS: Exome and Sanger sequencing was performed to reveal the genetic cause in two related patients with hypotr...

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Bibliografske podrobnosti
izdano v:Genet Med
Main Authors: van den Bogaard, Ellen H. J., van Geel, Michel, van Vlijmen-Willems, Ivonne M. J. J., Jansen, Patrick A. M., Peppelman, Malou, van Erp, Piet E. J., Atalay, Selma, Venselaar, Hanka, Simon, Marleen E. H., Joosten, Marieke, Schalkwijk, Joost, Zeeuwen, Patrick L. J. M.
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group US 2018
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752276/
https://ncbi.nlm.nih.gov/pubmed/30425301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0355-3
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