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A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome

✍ Scribed by Tony del Rio; Zsolt Urbán; Katalin Csiszár; Charles D Boyd


Book ID
110887817
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
882 KB
Volume
54
Category
Article
ISSN
0009-9163

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Fifty to eighty percent of Rett syndrome (RTT) cases have point mutations in the gene encoding methyl-CpG-binding protein-2 (MECP2). A fraction of MECP2 negative classical RTT patients has large heterozygous deletions. Robust Dosage PCR (RD-PCR) assays were developed as a rapid, convenient and accur