Associated Papers
Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review.
Han X et al.
Bmc Pediatrics, 2023
A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.
Spinetti E et al.
International Journal of Molecular Sciences, 2022
Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations.
Gijsbers A et al.
International Journal of Molecular Sciences, 2018
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR et al.
Journal of Pediatric Hematology/oncology, 2009
Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.
Erdos M et al.
Experimental Hematology, 2006
Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0
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