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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Detaylı Bibliyografya
Yayımlandı:Genet Med
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group US 2018
Konular:
Article
Online Erişim: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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