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Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

Background: The Schmid type of metaphyseal chondrodysplasia (MCDS) is generally due to mutations in COL10A1 encoding for type X collagen of cartilage. Methods: We performed a study on the genes coding for the RNA components of RNase MRP (MRPR) and RNase P (H1RNA) among 20 patients with diagnosis of...

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Hlavní autoři: Ridanpaa, M, Ward, L, Rockas, S, Sarkioja, M, Makela, H, Susic, M, Glorieux, F, Cole, W, Makitie, O
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2003
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735279/
https://ncbi.nlm.nih.gov/pubmed/14569119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.10.741
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