IDH1 as a Cooperating Mutation in AML Arising in the Context of Shwachman-Diamond Syndrome
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چکیده
منابع مشابه
the significance of conjunction as a cohesive device in teaching writing
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چکیده ندارد.
A case of Shwachman–Diamond syndrome
Shwachman–Diamond syndrome (SDS) is an autosomal recessive disorder (OMIM 260400), characterized by exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow (BM) dysfunction, with a risk, as high as 30%, to develop myelodysplastic syndrome and/or acute myeloid leukaemia (MDS/AML). The SBDS gene (OMIM 607744) is localized on chromosome 7 at the band q11 and mutations of this gen...
متن کاملDefective ribosome assembly in Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (SDS), a recessive leukemia predisposition disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, skeletal abnormalities and poor growth, is caused by mutations in the highly conserved SBDS gene. Here, we test the hypothesis that defective ribosome biogenesis underlies the pathogenesis of SDS. We create conditional mutants in the essential S...
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ژورنال
عنوان ژورنال: Frontiers in Oncology
سال: 2019
ISSN: 2234-943X
DOI: 10.3389/fonc.2019.00772