Associated Papers
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E et al.
Journal of Medical Genetics, 2011
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR et al.
Journal of Pediatric Hematology/oncology, 2009
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.
Shammas C et al.
The Journal of Biological Chemistry, 2005
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.
Mäkitie O et al.
Clinical Genetics, 2004
Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0
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