Article
Tracing the pathway between mutation and phenotype in osteogenesis imperfecta: isolation of mineralization-specific genes.
American journal of medical genetics - 3 May 1996
Culbert A A, Wallis G A, Kadler K E
Abstract excerpt
The brittleness of bone in people with lethal (type II) osteogenesis imperfecta, a heritable disorder caused by mutations in the type I collagen genes, arises from the deposition of abnormal collagen in the bone matrix. The inability of the abnormal collagen to participate in mineralization may b...
Topics
- Alkaline Phosphatase
- Animals
- Base Sequence
- Calcification, Physiologic
- Chick Embryo
- Cloning, Molecular
- Collagen
- Cystatins
- DNA Primers
- DNA Probes
- DNA, Complementary
- Fibroblasts
- Fibronectins
- Gene Library
- Humans
- Integrin-Binding Sialoprotein
- Molecular Sequence Data
- Osteogenesis Imperfecta