Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA
- Creator: van Kogelenberg, Margriet , Clark, Alice R. , Tolmie, John , Stewart, Fiona , Kivuva, Emma , Pilz, Daniela T. , Gabbett, Michael , Sutherland-Smith, Andrew J. , Robertson, Stephen P. , Jenkins, Zandra , Morgan, Tim , Anandan, Ananda , Sawyer, Gregory M. , Edwards, Matthew , Dudding, Tracy , Homfray, Tessa , Castle, Bruce
- Resource Type: journal article
- Date: 2015
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
- Creator: Hackett, Anna , Tarpey, Patrick S. , Tolmie, John , Yates, John R. W. , Turner, Gillian , WIlson, Meredith , Futreal, Andrew P. , Corbett, Mark , Shaw, Marie , Gecz, Jozef , Raymond, F. Lucy , Stratton, Micahel R. , Licata, Andrea , Schwartz, Charles E. , Abidi, Fatima E. , Cox, James , Whibley, Annabel , Boyle, Jackie , Rogers, Carolyn , Grigg, John , Partington, Michael , Stevenson, Roger E.
- Resource Type: journal article
- Date: 2010