Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.

Osteogenesis imperfecta (OI) type I is the mildest form of heritable bone fragility resulting from mutations within the COL1A1 gene. We studied fibroblasts established from a child with OI type I and demonstrated underproduction of alpha 1 (I) collagen chains and alpha 1 (I) mRNA. Indirect RNase pro...

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Autores principales: Stover, M L, Primorac, D, Liu, S C, McKinstry, M B, Rowe, D W
Formato: Artigo
Lenguaje:Inglês
Publicado: 1993
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC288367/
https://ncbi.nlm.nih.gov/pubmed/8408653
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