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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...
Autores principales: | Kringen, Marianne K, Stormo, Camilla, Berg, Jens Petter, Terry, Sharon F, Vocke, Christine M, Rizvi, Samar, Hendig, Doris, Piehler, Armin P |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BlackWell Publishing Ltd
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444165/ https://www.ncbi.nlm.nih.gov/pubmed/26029710 http://dx.doi.org/10.1002/mgg3.137 |
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