Three unrelated individuals with perinat
✍
Nicola J. Rose; Katrina Mackay; Anne Paepe; Beat Steinmann; Hope H. Punnett; Ray
📂
Article
📅
1994
🏛
Springer
🌐
English
⚖ 726 KB
In general, osteogenesis imperfecta is caused by heterozygous mutations in either of the genes encoding the alpha 1 or alpha 2 chains of type I collagen (COL1A1 and COL1A2, respectively). Usually, these mutations are unique to the affected individual or individuals within a family. In this study, si