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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752276/
https://www.ncbi.nlm.nih.gov/pubmed/30425301
http://dx.doi.org/10.1038/s41436-018-0355-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752276/
https://www.ncbi.nlm.nih.gov/pubmed/30425301
http://dx.doi.org/10.1038/s41436-018-0355-3

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