Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.

Eitemau Tebyg

• Location of the 11 bp exon in the chicken pro alpha 2(I) collagen gene.
  gan: Aho, S, et al.
  Cyhoeddwyd: (1984)
• Chick pro alpha 2 (I) collagen gene: exon location and coding potential for the prepropeptide.
  gan: Tate, V E, et al.
  Cyhoeddwyd: (1983)
• Cloning a cDNA for the pro-alpha 2 chain of human type I collagen.
  gan: Myers, J C, et al.
  Cyhoeddwyd: (1981)
• A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.
  gan: Vasan, N S, et al.
  Cyhoeddwyd: (1991)
• Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization.
  gan: Junien, C, et al.
  Cyhoeddwyd: (1982)