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Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

Zsolt Urbán; Virginia V. Michels; Stephen N. Thibodeau; Elaine C. Davis; Jean-Paul Bonnefont; Arnold Munnich; Benedicte Eyskens; Marc Gewillig; Koen Devriendt; Charles D. Boyd
Human Genetics · Vol. 106, Issue 6 · pp. 577-588 · 2000
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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2000-06-01
Publication Year2000
Volume106
Issue6
Pages577-588
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s004390000285

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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