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- aggregation classification "A1".
- aggregation creator B383083.
- aggregation creator B383084.
- aggregation creator B383085.
- aggregation creator B383086.
- aggregation creator person.
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- aggregation creator person.
- aggregation creator person.
- aggregation date "2010".
- aggregation format "application/pdf".
- aggregation hasFormat 1013943.bibtex.
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- aggregation isPartOf urn:issn:1434-5161.
- aggregation language "eng".
- aggregation publisher "NATURE PUBLISHING GROUP".
- aggregation rights "I don't know the status of the copyright for this publication".
- aggregation subject "Medicine and Health Sciences".
- aggregation title "Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region".
- aggregation abstract "Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing alleles. This study wanted to assess the importance of deletions and insertions in the ABCC6 genomic region, which is known to have a high recombinational potential. To detect ABCC6 deletions/insertions, which can be missed by direct sequencing, multiplex ligation-dependent probe amplification (MLPA) was applied in PXE patients with an incomplete genotype. MLPA was performed in 35 PXE patients with at least one unidentified mutant allele after exonic sequencing and exclusion of the recurrent exon 23-29 deletion. Six multi-exon deletions and four single-exon deletions were detected. Using MLPA in addition to sequencing, we expanded the ABCC6 mutation spectrum with 9 novel deletions and characterized 25% of unidentified disease alleles. Our results further illustrate the instability of the ABCC6 genomic region and stress the importance of screening for deletions in the molecular diagnosis of PXE. Journal of Human Genetics (2010) 55, 112-117; doi: 10.1038/jhg.2009.132; published online 15 January 2010".
- aggregation authorList BK692436.
- aggregation endPage "117".
- aggregation issue "2".
- aggregation startPage "112".
- aggregation volume "55".
- aggregation aggregates 1016998.
- aggregation isDescribedBy 1013943.
- aggregation similarTo jhg.2009.132.
- aggregation similarTo LU-1013943.