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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
SBDS
gene.
Austin KM, Leary RJ, Shimamura A. The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood. 2005 Aug 15;106(4):1253-8. Epub 2005 Apr 28.
PubMed citation
Boocock GR, Marit MR, Rommens JM. Phylogeny, sequence conservation, and functional complementation of the SBDS protein family. Genomics. 2006 Jun;87(6):758-71. Epub 2006 Mar 10.
PubMed citation
Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003 Jan;33(1):97-101. Epub 2002 Dec 23.
PubMed citation
Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer. 2005 Dec;45(7):892-901. Review.
PubMed citation
Entrez
Gene
Ganapathi KA, Austin KM, Lee CS, Dias A, Malsch MM, Reed R, Shimamura A. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood. 2007 Sep 1;110(5):1458-65. Epub 2007 May 2.
PubMed citation
Savchenko A, Krogan N, Cort JR, Evdokimova E, Lew JM, Yee AA, Sánchez-Pulido L, Andrade MA, Bochkarev A, Watson JD, Kennedy MA, Greenblatt J, Hughes T, Arrowsmith CH, Rommens JM, Edwards AM. The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem. 2005 May 13;280(19):19213-20. Epub 2005 Feb 8.
PubMed citation
Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ. Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. J Biol Chem. 2005 May 13;280(19):19221-9. Epub 2005 Feb 8.
PubMed citation
Shimamura A. Shwachman-Diamond syndrome. Semin Hematol. 2006 Jul;43(3):178-88. Review.
PubMed citation
Woloszynek JR, Rothbaum RJ, Rawls AS, Minx PJ, Wilson RK, Mason PJ, Bessler M, Link DC. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood. 2004 Dec 1;104(12):3588-90. Epub 2004 Jul 29.
PubMed citation
Reviewed: December 2007
Published: May 13, 2013
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