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Williams-Beuren Probe
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Cat.No.
FMDC-49
Description
Williams-Beuren Syndrome (WBS) is a developmental disorder caused by a microdeletion of 7q11.23. WBS displays connective tissue problems, typically supravalvular aortic stenosis (SVAS), growth retardation, renal anomalies, transient hypercalcaemia, hyperacusis and mental retardation. Haploinsufficiency of the elastin (ELN) gene has been identified as responsible for SVAS. However, of the remaining 15 genes identified within the WBS deletion, none of the remaining clinical features have been conclusively attributed to any one of these genes.
Size
5 Tests, 10 Tests
Label
Red/Green
Locus
7q11.23
Specificity
Human
Usage
For Research Use Only. Not for use in diagnostic procedures.Storage
Store at minus 20 centigrade
Citation Guidance
If you use this products in your scientific publication, it should be cited in the publication as: Creative Bioarray cat no. If your paper has been published, please click here to submit the PubMed ID of your paper to get a coupon.
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