Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations
RICHARDS, Allanj, MCNINCH, Annie, WHITTAKER, Joanne, TREACY, Becky, OAKHILL, Kim, POULSON, Arabella, SNEAD, Martin P
Published in European journal of human genetics : EJHG (01.05.2012)
Published in European journal of human genetics : EJHG (01.05.2012)
Get full text
Journal Article
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1
Richards, Allan J, McNinch, Annie, Martin, Howard, Oakhill, Kim, Rai, Harjeet, Waller, Sarah, Treacy, Becky, Whittaker, Joanne, Meredith, Sarah, Poulson, Arabella, Snead, Martin P
Published in Human mutation (01.06.2010)
Published in Human mutation (01.06.2010)
Get full text
Journal Article
RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B
CRANSTON, Aaron N, CARNITI, Cristiana, PIERONI, Marco A, WHITTAKER, Joanne, TAYLOR, Susan S, BONGARZONE, Italia, PONDER, Bruce A. J, OAKHILL, Kim, RADZIO-ANDZELM, Elzbieta, STONE, Eric A, MCCALLION, Andrew S, HODGSON, Shirley, CLARKE, Sue, MONDELLINI, Piera, LEYLAND, Jean
Published in Cancer research (Chicago, Ill.) (15.10.2006)
Published in Cancer research (Chicago, Ill.) (15.10.2006)
Get full text
Journal Article