Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome
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Publisher
Heidelberg: Springer
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Language
English
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Publisher
Heidelberg: Springer
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Contents
Shwachman-Diamond syndrome (SDS; OMIM 260400) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction and metaphyseal chondrodysplasia. SDS is caused by mutations in SBDS, an uncharacterized gene. A previous study in SDS patients largely of European ancestry found that most SBDS mutations occur...
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Full title
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome
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TN_cdi_proquest_miscellaneous_71690158
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_71690158
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ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-004-1081-2
