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Article

De novo splice mutation in the versican gene in a family with Wagner syndrome.

JAMA ophthalmology - 1 Jun 2013

Rothschild Pierre-Raphaël, Audo Isabelle, Nedelec Brigitte, Ghiotti Tiffany, Brézin Antoine P, Monin Claire, Valleix Sophie

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Identifiers

PMID: 23571384
DOI: 10.1001/jamaophthalmol.2013.681

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Related research

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Research trail→

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De novo splice mutation in the versican gene in a family with Wagner syndrome.PMID 23571384Read ↗

A family with Wagner syndrome with uveitis and a new versican mutation.Semantic proximity Read ↗

A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.Semantic proximity Read ↗

Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.Semantic proximity Read ↗

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.Semantic proximity Read ↗

Splicing mutation in the COL7A1 gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa.Semantic proximity Read ↗

Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations.Semantic proximity Read ↗

Identification of the genetic defect in the original Wagner syndrome family.Semantic proximity Read ↗

Atypical splice-site mutations causing VEXAS syndrome.Semantic proximity Read ↗

Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Aberrant and alternative splicing in skeletal system disease.Semantic proximity Read ↗

Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: the splice site mutation c.6216+5G > T in the COL7A1 gene results in aberrant and normal splicings.Semantic proximity Read ↗

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.Semantic proximity Read ↗

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