Article
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.
American journal of human genetics - 1 Oct 1994
Willing M C, Deschenes S P, Scott D A, Byers P H, Slayton R L, Pitts S H, Arikat H, Roberts E J
Abstract excerpt
Osteogenesis imperfecta (OI) type I is the mildest form of inherited brittle-bone disease. Dermal fibroblasts from most affected individuals produce about half the usual amount of type I procollagen, as a result of a COL1A1 "null" allele. Using PCR amplification of genomic DNA from affected indiv...
Topics
- Alleles
- Base Sequence
- Collagen
- DNA Primers
- Exons
- Family
- Genetic Variation
- Humans
- Molecular Sequence Data
- Mutation
- Osteogenesis Imperfecta
- Polymerase Chain Reaction
- RNA, Messenger
- Reference Values
- Restriction Mapping