Ontology highlight
ABSTRACT:
SUBMITTER: Kringen MK
PROVIDER: S-EPMC4444165 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Kringen Marianne K MK Stormo Camilla C Berg Jens Petter JP Terry Sharon F SF Vocke Christine M CM Rizvi Samar S Hendig Doris D Piehler Armin P AP
Molecular genetics & genomic medicine 20150308 3
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 study was to investigate the frequency and possible contribution of CNV in ABCC6 and its pseudogenes in PXE. Genomic DNA from 212 PXE individuals were examined for copy number by pyrosequencing and quan ...[more]