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Loss of the Mouse Ortholog of the Shwachman-Diamond Syndrome Gene (Sbds) Results in Early Embryonic Lethality

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 investigated t...

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Bibliografiske detaljer
Main Authors: Zhang, Siyi, Shi, Mingjun, Hui, Chi-chung, Rommens, Johanna M.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Microbiology 2006
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1592835/
https://ncbi.nlm.nih.gov/pubmed/16914746
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.00091-06
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