Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
Orphanet Journal Of Rare Diseases
Stengl, Roland R; Bors, András A; Ágg, Bence B; Pólos, Miklós M; Matyas, Gabor G; Molnár, Mária Judit MJ; Fekete, Bálint B; Csabán, Dóra D; Andrikovics, Hajnalka H; Merkely, Béla B; Radovits, Tamás T; Szabolcs, Zoltán Z; Benke, Kálmán K
Publication Date: 2020-10-15
Variant appearance in text: FBN1: 2113G>A; Ala705Thr