Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)

by Vijzelaar, Raymon, Waller, Sarah, Errami, Abdellatif, Donaldson, Alan, Lourenco, Teresa, Rodrigues, Marcia, McConnell, Vivienne, Fincham, Gregory, Snead, Martin, Richards, Allan
Published 2013

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

by 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 2013