Please use this identifier to cite or link to this item:
Title: Hematologically important mutations: Shwachman–Diamond syndrome
Authors: Costa, Elísio
Santos, Rosário
Keywords: SBDS
Shwachman-Diamond syndrome
Issue Date: 2008
Publisher: Elsevier
Citation: Costa, Elísio; Santos, Rosário (2008) - Hematologically important mutations: Shwachman–Diamond syndrome.Blood Cells, Molecules, and Diseases. ISSN 1079-9796. 40:2, p.183–184
Abstract: 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 SBDS gene have been described. In this report, a summary of documented SDS associated mutations is provided.
ISSN: 1079-9796
Appears in Collections:DTDT - Artigos em Revistas Indexados ao ISI/Scopus

Files in This Item:
File Description SizeFormat 
BCMD paper.pdf293,73 kBAdobe PDFView/Open

FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Degois 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.