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pro vyhledávání: '"Raphaël Chiarelli"'
Autor:
Gaëlle Odelin, Adèle Faucherre, Damien Marchese, Amélie Pinard, Hager Jaouadi, Solena Le Scouarnec, FranceGenRef Consortium, Raphaël Chiarelli, Younes Achouri, Emilie Faure, Marine Herbane, Alexis Théron, Jean-François Avierinos, Chris Jopling, Gwenaëlle Collod-Béroud, René Rezsohazy, Stéphane Zaffran
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Bicuspid aortic valve (BAV) is the most common cardiac defect and although highly heritable, few causal mutations have been identified. Here, the authors identify variants in the poly-histidine repeat motif of HOXA1 and show that its disruption leads
Externí odkaz:
https://doaj.org/article/f7e23b8b54634e9f9ca2535ee58a075d
