Biblioteca Digital do Instituto Politécnico de Bragança   Instituto Politécnico de Bragança

Biblioteca Digital do IPB >
Escola Superior de Saúde >
Departamento de Tecnologias de Diagnóstico Terapêutica >
DTDT - Artigos em Revistas Indexados ao ISI/Scopus >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10198/488

Título: Hematologically important mutations: Shwachman–Diamond syndrome
Autor: Costa, Elísio
Santos, Rosário
Palavras-chave: SBDS
SBDSP
Shwachman-Diamond syndrome
Mutations
Issue Date: 2008
Editora: Elsevier
Citação: Costa, Elísio; Santos, Rosário (2008) - Hematologically important mutations: Shwachman–Diamond syndrome.Blood Cells, Molecules, and Diseases. ISSN 1079-9796. 40:2, p.183–184
Resumo: 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.
URI: http://hdl.handle.net/10198/488
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

Please give feedback about this item
Statistics
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpaceOrkut
Formato BibTex mendeley Endnote Logotipo do DeGóis 

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

 


© Instituto Politécnico de Bragança - Biblioteca Digital - Feedback - Statistics
Promotores do RCAAP   Financiadores do RCAAP

Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência PO Sociedade do Conhecimento (POSC) Portal oficial da União Europeia