Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA
- 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
- 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
- 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.
- 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
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