Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
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Title
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
Authors
Keywords
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Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 111, Issue 11, Pages 4197-4202
Publisher
Proceedings of the National Academy of Sciences
Online
2014-03-04
DOI
10.1073/pnas.1312520111
References
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Note: Only part of the references are listed.- Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy
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- The identification and characterization of zebrafish hematopoietic stem cells
- (2011) D. Ma et al. BLOOD
- Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
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