A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda

Spondyloepiphyseal dysplasia tarda (SEDL) is a genetically heterogeneous disorder characterized by mild-to-moderate short stature and early-onset osteoarthritis. Both autosomal and X-linked forms have been described. Elsewhere, we have reported the identification of the gene for the X-linked recessi...

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Autores principales: Tiller, George E., Hannig, Vickie L., Dozier, Damon, Carrel, Laura, Trevarthen, Karrie C., Wilcox, William R., Mundlos, Stefan, Haines, Jonathan L., Gedeon, Agi K., Gecz, Jozef
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2001
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226126/
https://ncbi.nlm.nih.gov/pubmed/11326333
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