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Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis

1 Jul 1997

Abstract excerpt

We describe the complete exon-intron structure of the human elastin (ELN) gene located at chromosome 7q11.23. There are 34 exons occupying approximately 47 kb of genomic DNA. All exons are in-frame, allowing exon skipping without disrupting the reading frame. Microsatellites are located in introns 17 and 18. Deletions of all or large parts of the ELN gene have been previously reported in two patients with...

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PMID: 9215671
DOI: 10.1093/hmg/6.7.1029

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Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosisPMID 9215671Read ↗

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