Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.

Both Williams syndrome and isolated supravalvular aortic stenosis (SVAS) are caused by mutations at the elastin locus. Deletion demonstrable by FISH is the hallmark of Williams syndrome, whereas the mutations reported so far in SVAS have been more subtle. FISH positive elastin hemizygosity has not b...

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Hauptverfasser: Fryssira, H, Palmer, R, Hallidie-Smith, K A, Taylor, J, Donnai, D, Reardon, W
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1997
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050917/
https://ncbi.nlm.nih.gov/pubmed/9138154
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