Mutations in the Sarcoplasmic/Endoplasmic Reticulum Ca2+ ATPase Isoform Cause Darier's Disease

Darier's disease is an autosomal dominantly inherited skin disorder, characterized by loss of adhesion between epidermal cells and abnormal keratinization. ATP2A2 encoding the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase (SERCA)2 has been identified as the defective gene in Darier's dise...

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Veröffentlicht in:	Journal of investigative dermatology 2003-09, Vol.121 (3), p.486-489
Hauptverfasser:	Dhitavat, Jittima, Dode, Leonard, Leslie, Natalie, Sakuntabhai, Anavaj, Lorette, Gérard, Hovnanian, Alain
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals ATP2A2 Biological and medical sciences Calcium - metabolism Calcium-Transporting ATPases - chemistry Calcium-Transporting ATPases - genetics Calcium-Transporting ATPases - metabolism COS Cells Darier Disease - genetics Dermatology Dyskeratosis Endoplasmic Reticulum - enzymology Family Health Female Gene Deletion Gene Expression Humans Male Medical sciences Middle Aged Pedigree Protein Structure, Tertiary Sarcoplasmic Reticulum - enzymology Sarcoplasmic Reticulum Calcium-Transporting ATPases SERCA2
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