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
✦ LIBER ✦
Substitution of arginine for glycine at position 154 of the α1 chain of type I collagen in a variant of osteogenesis imperfecta: Comparison to previous cases with the same mutation
✍ Scribed by Zhuang, Jiapiao; Tromp, Gerard; Kuivaniemi, Helena; Castells, Salvador; Prockop, Darwin J.
- Book ID
- 122879895
- Publisher
- Elsevier Science
- Year
- 1994
- Tongue
- English
- Weight
- 81 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0945-053X
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