Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.

We have characterized a mutation in the type II collagen gene (COL2A1) that produces a form of spondyloepiphyseal dysplasia. The mutation is an internal tandem duplication of 45 base pairs within exon 48 and results in the addition of 15 amino acids to the triple-helical domain of the alpha 1 chains...

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Publié dans:	Proc Natl Acad Sci U S A
Auteurs principaux:	Tiller, G E, Rimoin, D L, Murray, L W, Cohn, D H
Format:	Artigo
Langue:	Inglês
Publié:	National Academy of Sciences 1990
Sujets:	Research Article
Accès en ligne:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC54009/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2339128/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.10.3889
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