Article
Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality.
Molecular and cellular biology - 1 Sept 2006
Zhang Siyi, Shi Mingjun, Hui Chi-Chung, Rommens Johanna M
Abstract excerpt
Mutations in SBDS are responsible for Shwachman-Diamond syndrome (SDS), a disorder with clinical features of exocrine pancreatic insufficiency, bone marrow failure, and skeletal abnormalities. SBDS is a highly conserved protein whose function remains largely unknown. We identified and investigate...
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