Allan Richards

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Abdellatif Errami1
Raymon Vijzelaar1
Gregory Fincham1
Marcia Rodrigues1
1Abdellatif Errami
1Raymon Vijzelaar
1Gregory Fincham
1Marcia Rodrigues
1Martin Snead
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  • Raymon Vijzelaar, Sarah Waller, Abdellatif Errami, Alan Donaldson, Teresa Lourenco, Marcia Rodrigues +4 others
  • 2013
COL11A1 is a large complex gene around 250 kb in length and consisting of 68 exons. Pathogenic mutations in the gene can result in Stickler syndrome, Marshall syndrome or Fibrochondrogenesis. Many of the mutations resulting in either Stickler or Marshall syndrome alter splice sites and result in exon skipping, which because of the exon structure of collagen(More)
  • 1