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Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
✍ Scribed by Helena E. Christiansen; Ulrike Schwarze; Shawna M. Pyott; Abdulrahman AlSwaid; Mohammed Al Balwi; Shatha Alrasheed; Melanie G. Pepin; Mary Ann Weis; David R. Eyre; Peter H. Byers
- Book ID
- 113422791
- Publisher
- American Society of Human Genetics
- Year
- 2010
- Tongue
- English
- Weight
- 869 KB
- Volume
- 86
- Category
- Article
- ISSN
- 0002-9297
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