A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.

Podobne zapisy

• Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.
  od: Schwarze, U, i wsp.
  Wydane: (1997)
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  od: Nicholls, A C, i wsp.
  Wydane: (1996)
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  od: Richards, A, i wsp.
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• Clinical presentations of Ehlers Danlos syndrome type IV.
  od: Pope, F M, i wsp.
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  od: Chiodo, A A, i wsp.
  Wydane: (1995)