19603532 |
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis
Roessler, E,
El-Jaick, KB,
Dubourg, C,
Vélez, JI,
Solomon, BD,
Pineda-Alvarez, DE,
Lacbawan, F,
Zhou, N,
Ouspenskaia, M,
Paulussen, A,
Smeets, HJ,
Hehr, U,
Bendavid, C,
Bale, S,
Odent, S,
David, V,
Muenke, M
|
Hum. Mutat. |
2009 |