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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4057820/
https://www.ncbi.nlm.nih.gov/pubmed/24898207
http://dx.doi.org/10.1186/1471-2350-15-64

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4057820/
https://www.ncbi.nlm.nih.gov/pubmed/24898207
http://dx.doi.org/10.1186/1471-2350-15-64

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