𝔖 Bobbio Scriptorium
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PI. Novel mutation in the C-propeptide of one COL1A1 allele of a patient with severe osteogenesis imperfecta

✍ Scribed by Oliver, JE; Thompson, EM; Pope, FM; Nicholls, AC

Book ID
121909159
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
159 KB
Volume
15
Category
Article
ISSN
8756-3282

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## Communicated by Peter Byers Osteogenesis imperfecta (OI) is caused by mutations in COL1A1 and COL1A2 that code for the a1 and a2 chains of type I collagen. Phenotypes correlate with the mutation types in that COL1A1 null mutations lead to OI type I, and structural mutations in a1(I) or a2(I) lea