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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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	Stover, M L, Primorac, D, Liu, S C, McKinstry, M B, Rowe, D W
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1993
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288367/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8408653/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116794
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