Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.

Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After...

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Bibliographic Details
Main Authors:	Sakuntabhai, A, Ruiz-Perez, V, Carter, S, Jacobsen, N, Burge, S, Monk, S, Smith, M, Munro, C, O'Donovan, M, Craddock, N, Kucherlapati, R, Rees, J, Owen, M, Lathrop, G, Monaco, A, Strachan, T, Hovnanian, A
Format:	Journal article
Language:	English
Published:	1999

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.

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