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A Dominant STIM1 Mutation Causes Stormorken Syndrome

11 Mar 2014

Abstract excerpt

Stormorken syndrome is a rare autosomal-dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. A heterozygous missense mutation in STIM1 exon 7 (c.910C>T; p.Arg304Trp) (NM_003156.3) was found to segregate with the disease in six Stormorken syndrome patients in four families. Upon sensing Ca(2+)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24619930
DOI: 10.1002/humu.22544

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A Dominant STIM1 Mutation Causes Stormorken SyndromePMID 24619930Read ↗

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A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation.Semantic proximity Read ↗

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