Copy number variations of the ATP-binding cassette transporter ABCC6 gene and its pseudogenes
نویسندگان
چکیده
منابع مشابه
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 study was to investigate the frequency and possible contribution of CNV in ABCC6 and its pseudogene...
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ژورنال
عنوان ژورنال: BMC Research Notes
سال: 2012
ISSN: 1756-0500
DOI: 10.1186/1756-0500-5-425