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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. 2014 Mar 18; 111(11):4197-202.
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PubMed
subject areas
Animals
Animals
Base Sequence
Base Sequence
Blood Platelet Disorders
Blood Platelet Disorders
Calcium Channels
Calcium Channels
Calcium Signaling
Calcium Signaling
Child
Child
DNA Primers
DNA Primers
Dyslexia
Dyslexia
Erythrocytes, Abnormal
Erythrocytes, Abnormal
Female
Female
Humans
Humans
Ichthyosis
Ichthyosis
Membrane Proteins
Membrane Proteins
Migraine Disorders
Migraine Disorders
Miosis
Miosis
Molecular Sequence Data
Molecular Sequence Data
Muscle Fatigue
Muscle Fatigue
Mutagenesis, Site-Directed
Mutagenesis, Site-Directed
Mutation
Mutation
Myopathies, Structural, Congenital
Myopathies, Structural, Congenital
Neoplasm Proteins
Neoplasm Proteins
ORAI1 Protein
ORAI1 Protein
Patch-Clamp Techniques
Patch-Clamp Techniques
Pedigree
Pedigree
Sequence Analysis, DNA
Sequence Analysis, DNA
Spleen
Spleen
Stromal Interaction Molecule 1
Stromal Interaction Molecule 1
Zebrafish
Zebrafish
authors with profiles
Patrick Gaffney
Leonidas Tsiokas