title: Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.
abstract: 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.
authors.affiliation: Department of Human Genetics, University of Newcastle upon Tyne.
authors.forename: C P
authors.initials: CP
authors.lastname: Bennett
authors.forename: J
authors.initials: J
authors.lastname: Burn
authors.forename: G E
authors.initials: GE
authors.lastname: Moore
authors.forename: J
authors.initials: J
authors.lastname: Chambers
authors.forename: R
authors.initials: R
authors.lastname: Williamson
authors.forename: J
authors.initials: J
authors.lastname: Wilkinson
mesh_terms: D001024:Aortic Valve Stenosis / Q000235:genetics*; D002116:Calcitonin / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome
chemical_list: D005819:Genetic Markers; D002116:Calcitonin