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Article

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

Journal of medical genetics - 1 Oct 2003

Ridanpää M, Ward L M, Rockas S, Särkioja M, Mäkelä H, Susic M, Glorieux F H, Cole W G, Mäkitie O

Abstract excerpt

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...

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Identifiers

PMID: 14569119
DOI: 10.1136/jmg.40.10.741
PMCID: PMC1735279

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14569119-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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