The Cardiac Myosin Binding Protein C Arg502Trp Mutation: A Common Cause of Hypertrophic Cardiomyopathy

Por Saltzman, Adam J., Mancini-DiNardo, Debora, Li, Chumei, Chung, Wendy K., Ho, Carolyn Y., Hurst, Stephanie, Wynn, Julia, Care, Melanie, Hamilton, Robert M., Seidman, Gregor W., Gorham, Joshua, McDonough, Barbara, Sparks, Elizabeth, Seidman, Jonathan G., Seidman, Christine E., Rehm, Heidi L.
Publicado em 2010

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Por Piotrowski, Arkadiusz, Xie, Jing, Liu, Ying F, Poplawski, Andrzej B, Gomes, Alicia R, Madanecki, Piotr, Fu, Chuanhua, Crowley, Michael R, Crossman, David K, Armstrong, Linlea, Babovic-Vuksanovic, Dusica, Bergner, Amanda, Blakeley, Jaishri O, Blumenthal, Andrea L, Daniels, Molly S, Feit, Howard, Gardner, Kathy, Hurst, Stephanie, Kobelka, Christine, Lee, Chung, Nagy, Rebecca, Rauen, Katherine A, Slopis, John M, Suwannarat, Pim, Westman, Judith A, Zanko, Andrea, Korf, Bruce R, Messiaen, Ludwine M
Publicado no Nat Genet (2013)