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Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Nat Genet. 2003 Jan;33(1):97-101. doi: 10.1038/ng1062. Epub 2002 Dec 23.
Nat Genet. 2003.
PMID: 12496757
Prevalence of oral diseases in Shwachman-Diamond syndrome.
Ho W, Cheretakis C, Durie P, Kulkarni G, Glogauer M.
Ho W, et al.
Spec Care Dentist. 2007 Mar-Apr;27(2):52-8. doi: 10.1111/j.1754-4505.2007.tb00328.x.
Spec Care Dentist. 2007.
PMID: 17539220
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Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiency.
Loftus SK, Cannons JL, Incao A, Pak E, Chen A, Zerfas PM, Bryant MA, Biesecker LG, Schwartzberg PL, Pavan WJ.
Loftus SK, et al.
PLoS Genet. 2005 Sep;1(3):e38. doi: 10.1371/journal.pgen.0010038.
PLoS Genet. 2005.
PMID: 16184191
Free PMC article.
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