A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OI

Hum Mutat. 1995;6(3):268-71. doi: 10.1002/humu.1380060315.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Base Sequence
  • Collagen / genetics*
  • Exons
  • Female
  • Humans
  • Molecular Sequence Data
  • Osteogenesis Imperfecta / genetics*
  • Polymerase Chain Reaction
  • RNA, Messenger / genetics*

Substances

  • RNA, Messenger
  • Collagen

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