A Gly238Ser substitution in the α2 chain of type I collagen results in osteogenesis imperfecta type III
✍ Scribed by Nicola J. Rose; Katrina Mackay; Peter H. Byers; Raymond Dalgleish
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 835 KB
- Volume
- 95
- Category
- Article
- ISSN
- 0340-6717
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## Clinical Data on Patients KO was 35 years of age at the time her cell strain was sent to us. She was born to healthy unrelated parents and has two healthy siblings, both of whom have unaffected children, and no other individuals with 0 1 were identified in the family. She had many fractures at
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