Article
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome
Fecha
2014Registro en:
CARVALHO, Claudia Marcia Benedetto de et al. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome. BMC Medical Genetics 2014, v. 15, p. 64
1471-2350
10.1186/1471-2350-15-64
Autor
Fonseca, Claudia Marcia Benedetto de Carvalho
Zuccherato, Luciana Werneck e
Williams, Christopher L
Neill, Nicholas J
Murdock, David R
Bainbridge, Matthew
Jhangiani, Shalini N
Muzny, Donna M
Gibbs, Richard A
Ip, Wan
Guillerman, Robert Paul
Lupski, James R
Bertuch, Alison A