Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations
نویسندگان
چکیده
منابع مشابه
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.
Mutations of MYH9, the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA), cause a complex clinical phenotype characterized by macrothrombocytopenia and granulocyte inclusion bodies, often associated with deafness, cataracts and/or glomerulonephritis. The pathogenetic mechanisms of these defects are either completely unknown or controversial. In particular, it is a matter of debate whether ...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2005
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddi344