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

12 Nov 2018

Abstract excerpt

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 hypotrichosis. Immunohistochemical, biophysical, and biochemical measurements were performed on patient skin and...

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PMID: 30425301
DOI: 10.1038/s41436-018-0355-3

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