Utilize este identificador para referenciar este registo: 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
Data: 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
Aparece nas colecções:DTDT - Artigos em Revistas Indexados ao ISI/Scopus

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