Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum

Single mutations in the ATP-binding cassette transporter (ABCC6) gene (OMIM 603234) are known to cause the rare autosomal recessive disease pseudoxanthoma elasticum (PXE). Recently, we have found that copy number variations (CNVs) in pseudogenes of the ABCC6 gene are quite common. The aim of this st...

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發表在:Mol Genet Genomic Med
Main Authors: Kringen, Marianne K, Stormo, Camilla, Berg, Jens Petter, Terry, Sharon F, Vocke, Christine M, Rizvi, Samar, Hendig, Doris, Piehler, Armin P
格式: Artigo
語言:Inglês
出版: BlackWell Publishing Ltd 2015
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Original Articles
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4444165/
https://ncbi.nlm.nih.gov/pubmed/26029710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.137
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