A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity

Multiple epiphyseal dysplasia (MED) is an autosomal dominantly inherited chondrodysplasia. It is clinically highly heterogeneous, partially because of its complex genetic background. Mutations in four genes, COL9A2, COL9A3, COMP, and MATR3, all coding for cartilage extracellular matrix components (i...

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Auteurs principaux: Czarny-Ratajczak, Malwina, Lohiniva, Jaana, Rogala, Piotr, Kozlowski, Kazimierz, Perälä, Merja, Carter, Liisa, Spector, Tim D., Kolodziej, Lukasz, Seppänen, Ulpu, Glazar, Renata, Królewski, Jan, Latos-Bielenska, Anna, Ala-Kokko, Leena
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2001
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274373/
https://ncbi.nlm.nih.gov/pubmed/11565064
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