MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

MYH9-related disease (MYH9-RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9). MYH9-RD is characterized by congenital macrothrombocytopenia and typical inclusion bodies in neutrophils associated w...

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Autors principals: De Rocco, Daniela, Zieger, Barbara, Platokouki, Helen, Heller, Paula G., Pastore, Annalisa, Bottega, Roberta, Noris, Patrizia, Barozzi, Serena, Glembotsky, Ana C., Pergantou, Helen, Balduini, Carlo L., Savoia, Anna, Pecci, Alessandro
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2013
Matèries:
Clinical Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3546164/
https://ncbi.nlm.nih.gov/pubmed/23123319
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2012.10.009
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