A substitution of arginine for glycine at amino acid position 154 of the al(1) collagen chain was found in a father and his three children. The phenotype of the patients includes manifestations of types I and IIUIV osteogenesis imperfecta, but appears to be milder than that of the previously describ
Substitution of glycine-172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III
✍ Scribed by Katrina Mackay; Anne De Paepe; Lieve Nuytinck; Raymond Dalgleish
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 194 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1059-7794
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