Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta
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| Description | scientific article |
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author: Peter H. Byers Mohammed Al Balwi |
| Publication date | March 12, 2010 |
| Language | English |
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| Missing/wrong data? | Edit Wikidata item |