"A heterozygous mutation of the elastin gene ( ELN: p.val154met) fully co-segregates with classic marfan phenotype in a sardinian family: a possible novel disease-gene?"

"A heterozygous mutation of the elastin gene ( ELN: p.val154met) fully co-segregates with classic marfan phenotype in a sardinian family: a possible novel disease-gene?" / Marziliano, Nicola; Casu, G. - In: JOURNAL OF INVESTIGATIVE GENOMICS. - ISSN 2373-4469. - 5:1(2018). [10.15406/jig.2018.05.00072]