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Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.

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...

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Autors principals: Bennett, C P, Burn, J, Moore, G E, Chambers, J, Williamson, R, Wilkinson, J
Format: Artigo
Idioma:Inglês
Publicat: 1988
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050456/
https://ncbi.nlm.nih.gov/pubmed/3164411
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