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A D1424N mutation in the MYH9 gene results in macrothrombocytopenia and granulocytic inclusion bodies in a Chinese inherited macrothrombocytopenia pedigree

A D1424N mutation in the MYH9 gene results in macrothrombocytopenia and granulocytic inclusion... http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Chemistry and Laboratory Medicine (CCLM) de Gruyter

A D1424N mutation in the MYH9 gene results in macrothrombocytopenia and granulocytic inclusion bodies in a Chinese inherited macrothrombocytopenia pedigree

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Publisher
de Gruyter
Copyright
©2018 Walter de Gruyter GmbH, Berlin/Boston
ISSN
1437-4331
eISSN
1437-4331
DOI
10.1515/cclm-2017-0813
Publisher site
See Article on Publisher Site

Abstract

Journal

Clinical Chemistry and Laboratory Medicine (CCLM) – de Gruyter

Published: Jun 27, 2018

References

  • Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder
  • First report of reproductive assistance in a woman affected by May-Hegglin anomaly
  • Perinatal management for a pregnant woman with an MYH9 disorder
  • Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly
  • Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes
  • MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations
  • Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)
  • MYH9 nephropathy
  • Inherited thrombocytopenias in the era of personalized medicine
  • Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-related disorders