An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.

Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome. We have determined that cartilage from a terminated fetus wi...

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Autori principali: Tiller, G E, Weis, M A, Polumbo, P A, Gruber, H E, Rimoin, D L, Cohn, D H, Eyre, D R
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1995
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801144/
https://ncbi.nlm.nih.gov/pubmed/7847372
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