Hematologically important mutations: Shwachman–Diamond syndrome
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منابع مشابه
Hematologically important mutations: Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. The Shwachman-Bodian-Diamond syndrome (SBDS) gene was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. Over the last 4 years, a number of different mutations affecting the ...
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ژورنال
عنوان ژورنال: Blood Cells, Molecules, and Diseases
سال: 2008
ISSN: 1079-9796
DOI: 10.1016/j.bcmd.2007.07.008