(Q57784064)

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Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers-danlos type IV

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Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers-danlos type IV (English)

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Ehlers-Danlos syndrome

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Helena Kuivaniemi

object named as

Helena Kuivaniemi

3

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Gerard Tromp

4

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author name string

Smita Thakker-Varia

1

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David W. Anderson

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Hyeon-Gyu Shin

5

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Michel van der Rest

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Francis H. Glorieux

7

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Leena Ala-kokko

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Catherine A. Stolle

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publication date

1995

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6

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2

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116-125

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Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences

1 reference

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21 January 2018

Low production of procollagen III by skin fibroblasts from patients with Ehlers-Danlos syndrome type IV is not caused by decreased levels of procollagen III mRNA.

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Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed

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Exon definition may facilitate splice site selection in RNAs with multiple exons

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Regulation of the production of secretory proteins: intracellular degradation of newly synthesized "defective" collagen

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Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution.

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A Film Detection Method for Tritium-Labelled Proteins and Nucleic Acids in Polyacrylamide Gels

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Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

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Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

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The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA.

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Protein degradation in the endoplasmic reticulum

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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Degradation from the endoplasmic reticulum: disposing of newly synthesized proteins

1 reference

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Molecular cloning and carboxyl-propeptide analysis of human type III procollagen

1 reference

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Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV

1 reference

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A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

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DNA sequencing with chain-terminating inhibitors

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A coat subunit of Golgi-derived non-clathrin-coated vesicles with homology to the clathrin-coated vesicle coat protein beta-adaptin.

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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Translocation of TCR alpha chains into the lumen of the endoplasmic reticulum and their degradation

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Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule

1 reference

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based on heuristic

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Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.

1 reference

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based on heuristic

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Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose

1 reference

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based on heuristic

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Temperature sensitivity of aberrant RNA splicing with a mutation in theG+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV

1 reference

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based on heuristic

inferred from DOI database lookup

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10.1002/HUMU.1380060204

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