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: Carvalho, Claudia M B, Zuccherato, Luciana W, Williams, Christopher L, Neill, Nicholas J, Murdock, David R, Bainbridge, Matthew, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Ip, Wan, Guillerman, Robert Paul, Lupski, James R, Bertuch, Alison A
格式: Artigo
語言:Inglês
出版: BioMed Central 2014
主題:
Case Report
在線閱讀: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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