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Article

Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia.

American journal of medical genetics - 31 Jan 2000

Lohiniva J, Paassilta P, Seppänen U, Vierimaa O, Kivirikko S, Ala-Kokko L

Abstract excerpt

We report on a three-generation family with multiple epiphyseal dysplasia (MED). The propositus had typical MED findings of knees, ankles, elbows, and hands in childhood. The 2 other affected relatives were adults. The main clinical findings consisted of osteochondritis dissecans and osteoarthritis of the knees. DNA of the propositus was screened for mutations by conformation sensitive gel electrophoresis in all...

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PMID: 10678658

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Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia.PMID 10678658Read ↗

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.Semantic proximity Read ↗

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A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathySemantic proximity Read ↗

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COL9A3: A third locus for multiple epiphyseal dysplasia.Semantic proximity Read ↗

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.Semantic proximity Read ↗

Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia.Semantic proximity Read ↗

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A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.Semantic proximity Read ↗

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