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Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome
BACKGROUND: Shwachman–Diamond syndrome (SDS) is an autosomal recessive ribosomopathy caused mainly by compound heterozygous mutations in SBDS. Structural variation (SV) involving the SBDS locus has been rarely reported in association with the disease. We aimed to determine whether an SV contributed...
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| Main Authors: | , , , , , , , , , , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
BioMed Central
2014
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4057820/ https://ncbi.nlm.nih.gov/pubmed/24898207 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-64 |
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