Darier Disease - A Multi-organ Condition?

• Autori principali: Etty Bachar-Wikström (Autore), Jakob D. Wikström (Autore)
• Natura: Libro
• Pubblicazione: Medical Journals Sweden, 2021-04-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Darier disease is a severe, rare autosomal dominant inherited skin condition caused by mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca2+-ATPase isoform 2 in the endoplasmic reticulum. Since sarcoendoplasmic reticulum Ca2+-ATPase isoform 2 is expressed in most tissues, and intrace...