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MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instabilityDefective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfectaMolecular and mesoscale mechanisms of osteogenesis imperfecta disease in collagen fibrilsThe functional importance of disease-associated mutationOsteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessmentMutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients.Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.Dissecting the genetics of human high myopia: a molecular biologic approachMutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort studyA novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta.Subarachnoid hemorrhage secondary to a ruptured middle cerebral aneurysm in a patient with osteogenesis imperfecta: a case report.Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.MatrixDB, the extracellular matrix interaction databaseHyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.Collagens and collagen-related diseases.Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.Technical challenges of total knee arthroplasty in skeletal dysplasiaHeterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese familyGenotype-phenotype correlations in autosomal dominant osteogenesis imperfectaA single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.Osteogenesis imperfecta missense mutations in collagen: structural consequences of a glycine to alanine replacement at a highly charged site.Osteogenesis Imperfecta: A Review with Clinical Examples.Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report.Multiparametric Classification of Skin from Osteogenesis Imperfecta Patients and Controls by Quantitative Magnetic Resonance MicroimagingIncreased Young's modulus and hardness of Col1a2oim dentin.Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.Inherited disorders in Danish cattle.Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutationsExpanding the clinical spectrum of COL1A1 mutations in different forms of glaucomaMapping the Effect of Gly Mutations in Collagen on α2β1 Integrin Binding.Characterization of skin abnormalities in a mouse model of osteogenesis imperfecta using high resolution magnetic resonance imaging and Fourier transform infrared imaging spectroscopyPotential of human fetal chorionic stem cells for the treatment of osteogenesis imperfectaMolecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaCOL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus.The collagen family.A brilliant breakthrough in OI type V.Materiomics: biological protein materials, from nano to macro.
P2860
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P2860
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
The human type I collagen mutation database.
@en
The human type I collagen mutation database.
@nl
type
label
The human type I collagen mutation database.
@en
The human type I collagen mutation database.
@nl
prefLabel
The human type I collagen mutation database.
@en
The human type I collagen mutation database.
@nl
P2860
P356
P1476
The human type I collagen mutation database.
@en
P2093
Dalgleish R
P2860
P304
P356
10.1093/NAR/25.1.181
P407
P577
1997-01-01T00:00:00Z