منابع مشابه
Studies of a familial platelet disorder.
At least 22 members of a large kindred have a bleeding tendency resulting from an autosomal dominant disorder of platelet production and function. Phenotypic manifestations include mild to moderate thrombocytopenia, bleeding time prolongation, and abnormal platelet aggregation. Platelet survival time is normal. The platelet disorder in this family appears to differ from known hereditary thrombo...
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Familial eosinophilia (FE) is an autosomal dominant disorder characterized by marked eosinophilia and progression to end organ damage in some, but not all, affected family members. To better define the pathogenesis of FE, 13 affected and 11 unaffected family members (NLs) underwent a detailed clinical evaluation at the National Institutes of Health (NIH). No clinical abnormalities were more fre...
متن کاملA novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies.
We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies. Sequence studies demonstrate that all affected individuals of the pedigree display a heterozygous single nucleotide deletion in exon 8 of the RUNX1 gene.
متن کاملA novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies.
Hereditary mutations associated with hematologic malignancies are rare. Heterozygous mutations affecting the hematopoietic transcription factor CBFA2 (also AML1/RUNX1) were recently reported to be associated with familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML, MIM 601399). A new 3-generation family with FPD/AML with a novel CBFA2 mutation is described. In this...
متن کاملApplication of platelet-rich plasma and other platelet-derivative products in Iranian studies
Introduction: The use of platelet products such as platelet-rich plasma (PRP) as a component of regenerative medicine has been on the rise in Iran like other countries. We aimed to go over the current published work of Iranian researchers on platelet products, while performing qualitative and quantitative assessments about them. Materials and Methods: This study was performed as review study. T...
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ژورنال
عنوان ژورنال: Blood
سال: 1985
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v65.3.557.557