Publicação
Hematologically important mutations: Shwachman–Diamond syndrome
| 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. |
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| Autores principais: | Costa, Elísio |
| Outros Autores: | Santos, Rosário |
| Assunto: | SBDS SBDSP Shwachman-Diamond syndrome Mutations |
| Ano: | 2008 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Instituto Politécnico de Bragança |
| Idioma: | inglês |
| Origem: | Biblioteca Digital do IPB |
| 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. |
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