MYH9-related disease: Report on five German families and description of a novel mutation
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چکیده
منابع مشابه
wuthering heights and the concept of marality/a sociological study of the novel
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متن کاملMYH9 Mutation, the Hidden Face of Diverse Disease Spectrum - from Renal Perspective. Renal Perspective of MYH9 Mutation
MYH9 gene mutation results in a spectrum of diseases, such as May -Heglin anomaly and Epstein syndrome, depending upon the type of isoforms involved [1]. This mutation is inherited as an autosomal dominant entity and the gene encodes for non-muscle myosin heavy chain IIA (NMMHC-IIA) which is a part of myosin superfamily. The exact incidence of this disease in different populations is yet to be ...
متن کاملThrombin generation in two families with MYH9-related platelet disorder.
MYH9-related platelet disorders are inherited macrothrombocytopenias with additional clinical manifestations including renal failure, hearing loss, pre-senile cataract, and inclusion bodies in leucocytes that are present in different combinations. The MYH9 gene codes for the cytoplasmic contractile protein non-muscular myosin heavy chain IIA, present in several tissues. The bleeding tendency is...
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ژورنال
عنوان ژورنال: Annals of Hematology
سال: 2010
ISSN: 0939-5555,1432-0584
DOI: 10.1007/s00277-010-0928-y