(Q57784105)

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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

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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 (English)

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Ehlers-Danlos syndrome

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Helena Kuivaniemi

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Helena Kuivaniemi

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Gerard Tromp

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author name string

Yuli Wu

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Deike Strobel

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Anne M. Romanic

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Darwin J. Prockop

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publication date

1993

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2

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28-36

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1

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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

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A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms

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

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Splicing of messenger RNA precursors

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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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Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease

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DNA sequencing with chain-terminating inhibitors

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C to T polymorphism in exon 33 of the COL3A1 gene

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10.1002/HUMU.1380020106

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