Pages that link to "Q43585331"

The following pages link to Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. (Q43585331):

Displaying 17 items.

• Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships (Q24655456) (← links)
• Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates (Q24656537) (← links)
• Definition of transcriptome-based indices for quantitative characterization of chemically disturbed stem cell development: introduction of the STOP-Toxukn and STOP-Toxukk tests (Q29248402) (← links)
• Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen (Q34101398) (← links)
• Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. (Q34113108) (← links)
• Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. (Q34329145) (← links)
• Association of COL2A1 gene polymorphism with degenerative lumbar scoliosis (Q34518766) (← links)
• Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta (Q36337201) (← links)
• Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. (Q37171493) (← links)
• Gene expression profile analysis of human intervertebral disc degeneration (Q37225915) (← links)
• Characterization of skin abnormalities in a mouse model of osteogenesis imperfecta using high resolution magnetic resonance imaging and Fourier transform infrared imaging spectroscopy (Q37466102) (← links)
• SEC-Translocon Dependent Extracytoplasmic Proteins of Candidatus Liberibacter asiaticus. (Q37515964) (← links)
• Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix (Q44285406) (← links)
• Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen (Q44518185) (← links)
• Impaired pyridinoline cross-link formation in patients with osteogenesis imperfecta. (Q46502446) (← links)
• Age-related changes in human bone proteoglycan structure. Impact of osteogenesis imperfecta (Q74763959) (← links)
• Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1 (Q93023803) (← links)