학술논문
SLFN14 gene mutations associated with bleeding.
Document Type
Article
Source
Subject
*BLOOD platelet disorders
*ORGANELLE formation
*GENES
*RNA metabolism
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Language
ISSN
0953-7104
Abstract
Keywords: Bleeding; genes; inherited thrombocytopenia; mutations; platelets All individuals had macrothrombocytopenia, characterized by a reduced platelet count (below 150x10 SP 9 sp /L) and enlarged platelets suggesting this is a typical feature of I SLFN14 i related thrombocytopenia. Table I. SLFN14 variants reported to date in patients with inherited macrothrombocytopenia, platelet-type bleeding disorder 20 (BDPLT20). All patients in these reported families were heterozygous for the mutations and therefore phenotypically defined by platelet-type bleeding disorder 20 (BDPLT20) which is specific to heterozygous mutations in the I SLFN14 i gene. [Extracted from the article]