RT Journal Article
SR Electronic
T1 Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 311
OP 312
DO 10.1136/jmg.25.5.311
VO 25
IS 5
A1 C P Bennett
A1 J Burn
A1 G E Moore
A1 J Chambers
A1 R Williamson
A1 J Wilkinson
YR 1988
UL http://jmg.bmj.com/content/25/5/311.abstract
AB Supravalvular aortic stenosis (SVAS) may occur as an isolated autosomal dominant trait or as a feature of Williams syndrome. It has been suggested that a defect in calcitonin function may play a role in Williams syndrome. We have excluded calcitonin as a candidate gene for SVAS using a gene specific probe.