Life Sciences
New life sciences data have been reported by scientists at University of Pavia
Published in Blood Weekly, April 30th, 2009
New research, 'The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome,' is the subject of a report. According to a study from Pavia, Italy, "Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder, characterized by exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow (BM) dysfunction with an increased risk to develop myelodysplastic syndrome and/or acute myeloid leukaemia (MDS/AML). SDS is caused, in nearly 90% of cases, by two common mutations (that is, c.183_184TA >CT and c.258+2T >C) in exon 2 of the SBDS gene, localized on chromosome...
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Source: Blood Weekly (2009-04-30)
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