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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Detalles Bibliográficos
Autores principales: Kringen, Marianne K, Stormo, Camilla, Berg, Jens Petter, Terry, Sharon F, Vocke, Christine M, Rizvi, Samar, Hendig, Doris, Piehler, Armin P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Original Articles
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

Internet

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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