Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta (Q24632692)
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scientific article
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta |
scientific article |
Statements
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta (English)
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12 March 2010
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86
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3
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389-98
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