Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing.
Scientific Reports
Seppälä, Jonne J; Bernardi, Rafael C RC; Haataja, Tatu J K TJK; Hellman, Maarit M; Pentikäinen, Olli T OT; Schulten, Klaus K; Permi, Perttu P; Ylänne, Jari J; Pentikäinen, Ulla U
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Journal Of Medical Genetics
Bicknell, Louise S LS; Farrington-Rock, Claire C; Shafeghati, Yousef Y; Rump, Patrick P; Alanay, Yasemin Y; Alembik, Yves Y; Al-Madani, Navid N; Firth, Helen H; Karimi-Nejad, Mohammad Hassan MH; Kim, Chong Ae CA; Leask, Kathryn K; Maisenbacher, Melissa M; Moran, Ellen E; Pappas, John G JG; Prontera, Paolo P; de Ravel, Thomy T; Fryns, Jean-Pierre JP; Sweeney, Elizabeth E; Fryer, Alan A; Unger, Sheila S; Wilson, L C LC; Lachman, Ralph S RS; Rimoin, David L DL; Cohn, Daniel H DH; Krakow, Deborah D; Robertson, Stephen P SP