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Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome

  • Published:2011-04-21 Issue:16 Volume:117 Page:4399-4400
  • ISSN:0006-4971
  • Container-title:Blood
  • language:en
  • Short-container-title:

Author:

Castoldi Elisabetta1,Collins Peter W.2,Williamson Patrick L.3,Bevers Edouard M.1

Affiliation:

1. Department of Biochemistry, Maastricht University, Maastricht, The Netherlands

2. Arthur Bloom Haemophilia Centre, School of Medicine Cardiff University, University Hospital of Wales, Cardiff, United Kingdom

3. Department of Biology, Amherst College, Amherst, MA

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Reference4 articles.

1. Phospholipid scramblase: an update.;Bevers;FEBS Lett,2010

2. Calcium-dependent phospholipid scrambling by TMEM16F.;Suzuki;Nature,2010

3. Identification and characterization of TMEM16E and TMEM16F genes in silico.;Katoh;Int J Oncol,2004

4. Store-mediated calcium entry in the regulation of phosphatidylserine exposure in blood cells from Scott patients.;Munnix;Thromb Haemost,2003

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