PT  - JOURNAL ARTICLE
AU  - C P Bennett
AU  - J Burn
AU  - G E Moore
AU  - J Chambers
AU  - R Williamson
AU  - J Wilkinson
TI  - Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.
AID  - 10.1136/jmg.25.5.311
DP  - 1988 May 01
TA  - Journal of Medical Genetics
PG  - 311--312
VI  - 25
IP  - 5
4099  - http://jmg.bmj.com/content/25/5/311.short
4100  - http://jmg.bmj.com/content/25/5/311.full
SO  - J Med Genet1988 May 01; 25
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.