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Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta
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Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Osteogenesis imperfecta
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Differential expression of type III collagen in male and female mice
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Type III collagen is important for dermal and cardiovascular development, and type I collagen fibrillogenesis
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Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development
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- Journal Article
- A1
- open access
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans