A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus...

por Chesneau, Bertrand, Plancke, Aurélie, Rolland, Guillaume, Marcheix, Bertrand, Dulac, Yves, Edouard, Thomas, Plaisancié, Julie, Aubert‐Mucca, Marion, Julia, Sophie, Langeois, Maud, Lavabre‐Bertrand, Thierry, Khau Van Kien, Philippe
Publicado 2021

Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

por Chesneau, Bertrand, Plancke, Aurélie, Rolland, Guillaume, Chassaing, Nicolas, Coubes, Christine, Brischoux-Boucher, Elise, Edouard, Thomas, Dulac, Yves, Aubert-Mucca, Marion, Lavabre-Bertrand, Thierry, Plaisancié, Julie, Khau Van Kien, Philippe
Publicado 2021