Article
SBDS protein expression patterns in the bone marrow.
Pediatric blood & cancer - 1 Sept 2010
Wong Trisha E, Calicchio Monica L, Fleming Mark D, Shimamura Akiko, Harris Marian H
Abstract excerpt
Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome caused by biallelic SBDS gene mutations. Here we examined SBDS protein levels in human bone marrow. SBDS protein expression was high in neutrophil progenitors, megakaryocytes, plasma cells, and osteoblasts. In contrast, SBDS protein levels were low in all hematopoietic cell lineages from patients harboring the common SBDS mutations. We...
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