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CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
Hackett, Anna, Tarpey, Patrick S, Licata, Andrea, Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger EVolume:
18
Year:
2009
Language:
english
Pages:
9
DOI:
10.1038/ejhg.2009.220
File:
PDF, 675 KB
english, 2009