Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

Calcium (Ca2+) acts as a ubiquitous second messenger, and normal cell and tissue physiology strictly depends on the precise regulation of Ca2+ entry, storage, and release. Store‐operated Ca2+ entry (SOCE) is a major mechanism controlling extracellular Ca2+ entry, and mainly relies on the accurate in...

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Veröffentlicht in:Human mutation 2020-01, Vol.41 (1), p.17-37
Hauptverfasser: Morin, Gilles, Biancalana, Valérie, Echaniz‐Laguna, Andoni, Noury, Jean‐Baptiste, Lornage, Xavière, Moggio, Maurizio, Ripolone, Michela, Violano, Raffaella, Marcorelles, Pascale, Maréchal, Denis, Renaud, Florence, Maurage, Claude‐Alain, Tard, Céline, Cuisset, Jean‐Marie, Laporte, Jocelyn, Böhm, Johann
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Sprache:eng
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