Associated Papers
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
41179686 (PubMed )
Supplement: Table2.xls › Sheet1
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.
Lee H et al.
Annals of Laboratory Medicine, 2023
Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum.
Wu D et al.
Plos One, 2022
Variations in exon-2 of SBDS gene and its association with aplastic anemia.
Jain D et al.
International Journal of Laboratory Hematology, 2014
Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia.
Aalbers AM et al.
British Journal of Haematology, 2013
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR et al.
Journal of Pediatric Hematology/oncology, 2009
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.
Chuzhanova N et al.
Human Mutation, 2009
Mutation of SBDS and SH2D1A is not associated with aplastic anemia in Japanese children.
Wang Y et al.
Haematologica, 2007
Gene conversion: mechanisms, evolution and human disease.
Chen JM et al.
Nature Reviews. Genetics, 2007
Identification of novel mutations in patients with Shwachman-Diamond syndrome.
Nicolis E et al.
Human Mutation, 2005
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
Nakashima E et al.
Human Genetics, 2004
[New methods for the detection of gene mutation].
Zhang B et al.
Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 1993
Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0
Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0
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