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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Current Data About Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta
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(P1932) Peter H Byers

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(P1932) Mohammed Al Balwi
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(P1476) "Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta" (language: en)

(P2093) Helena E Christiansen
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Ulrike Schwarze
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Shawna M Pyott
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Abdulrahman AlSwaid
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Shatha Alrasheed
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Melanie G Pepin
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Mary Ann Weis
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David R Eyre
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(P854) https://pubmed.ncbi.nlm.nih.gov/20188343
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