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Hematologically important mutations: Shwachman-Diamond syndrome

Title
Hematologically important mutations: Shwachman-Diamond syndrome
Type
Article in International Scientific Journal
Year
2008
Authors
Elisio Costa
(Author)
FFUP
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Rosario Santos
(Author)
Other
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Journal
Vol. 40
Pages: 183-184
ISSN: 1079-9796
Publisher: Elsevier
Scientific classification
FOS: Medical and Health sciences > Clinical medicine
Other information
Authenticus ID: P-004-10V
Abstract (EN): 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.
Language: English
Type (Professor's evaluation): Scientific
No. of pages: 2
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