Autor(es):
Costa, Elísio 
; Santos, Rosário
Data: 2008
Identificador Persistente: http://hdl.handle.net/10198/488
Origem: Biblioteca Digital do IPB
Assunto(s): SBDS; SBDSP; Shwachman-Diamond syndrome; Mutations
Detalhes do Documento
Hematologically important mutations: Shwachman–Diamond syndrome
Descrição
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.
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.
Tipo de Documento
Artigo
Idioma Inglês
Idioma Inglês
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