Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping.

doi:10.1111/1523-1747.ep12320704

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Article

Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping.

The Journal of investigative dermatology - 1 Sept 1995

Kuivaniemi H, Tromp G, Bergfeld W F, Kay M, Helm T N

Abstract excerpt

The Ehlers-Danlos syndrome has been classified into nine phenotypic presentations. Type IV is a variant of particular importance because people affected with this genodermatosis are at great risk of spontaneous hemorrhage from vascular rupture or bowel perforation. Recent molecular advances have...

Topics

Adolescent
Base Sequence
DNA
Ehlers-Danlos Syndrome
Exons
Humans
Male
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Phenotype
Polymerase Chain Reaction
Procollagen
RNA Splicing

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