Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1)
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Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variantsA base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VIIMedical genetics in South AfricaThe clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutationMutation of the 5'-untranslated region stem-loop structure inhibits α1(I) collagen expression in vivo.Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.Partial rescue of a lethal phenotype of fragile bones in transgenic mice with a chimeric antisense gene directed against a mutated collagen geneConformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing.Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strainsOsteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagenAlternatively spliced type II procollagen mRNAs define distinct populations of cells during vertebral development: differential expression of the amino-propeptideFeedback regulation of collagen gene expression: a Trojan horse approach.Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology.Involvement of fibrocytes in asthma and clinical implications.Regulatory role of the conserved stem-loop structure at the 5' end of collagen alpha1(I) mRNA.The human type I collagen mutation database.PCR detection of a COL1A1 RsaI RFLP.Synthesis of recombinant human procollagen II in a stably transfected tumour cell line (HT1080).An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescueAnalysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-aStructural analyses of the polymorphic area in type II collagen gene.A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing thCharacterization of two genes coding for a similar four-cysteine motif of the amino-terminal propeptide of a sea urchin fibrillar collagen.A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.Type IIA procollagen in development of the human intervertebral disc: regulated expression of the NH(2)-propeptide by enzymic processing reveals a unique developmental pathway.
P2860
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P2860
Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1)
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name
Complete nucleotide sequence o ...... exons of the human pro alpha 1
@nl
Complete nucleotide sequence o ...... ha 1(I) collagen gene (COL1A1)
@en
type
label
Complete nucleotide sequence o ...... exons of the human pro alpha 1
@nl
Complete nucleotide sequence o ...... ha 1(I) collagen gene (COL1A1)
@en
prefLabel
Complete nucleotide sequence o ...... exons of the human pro alpha 1
@nl
Complete nucleotide sequence o ...... ha 1(I) collagen gene (COL1A1)
@en
P2093
P1433
P1476
Complete nucleotide sequence o ...... ha 1(I) collagen gene (COL1A1)
@en
P2093
M D'Alessio
P J Pretorius
P304
P356
10.1016/0378-1119(88)90013-3
P407
P577
1988-07-01T00:00:00Z