Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss
Richards, Allan J, Fincham, Gregory S, McNinch, Annie, Hill, David, Poulson, Arabella V, Castle, Bruce, Lees, Melissa M, Moore, Anthony T, Scott, John D, Snead, Martin P
Published in Journal of medical genetics (01.11.2013)
Published in Journal of medical genetics (01.11.2013)
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Journal Article
CLINICAL PHENOTYPES ASSOCIATED WITH TYPE II COLLAGEN MUTATIONS
Hanspal, Inderraj, McNinch, Annie, Richards, Allan, Snead, Martin
Published in Journal of paediatrics and child health (01.10.2012)
Published in Journal of paediatrics and child health (01.10.2012)
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Journal Article