Mutations in the SBDS gene in acquired aplastic anemia

Shwachman-Diamond syndrome (SDS; OMIM 260400), an inherited bone marrow failure syndrome, is caused by mutations in both alleles of the SBDS gene, which encodes a protein of unknown function. Here we report heterozygosity for the 258 + 2 T>C SBDS gene mutation previously identified in SDS patient...

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Autors principals: Calado, Rodrigo T., Graf, Solomon A., Wilkerson, Keisha L., Kajigaya, Sachiko, Ancliff, Philip J., Dror, Yigal, Chanock, Stephen J., Lansdorp, Peter M., Young, Neal S.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2007
Matèries:
Hematopoiesis
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1939897/
https://ncbi.nlm.nih.gov/pubmed/17478638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2007-03-080044
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