Rockas S - Search Results

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Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A. Ridanpää M, et al. Among authors: rockas s. Cell. 2001 Jan 26;104(2):195-203. doi: 10.1016/s0092-8674(01)00205-7. Cell. 2001. PMID: 11207361 Free article.

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

Ridanpää M, Sistonen P, Rockas S, Rimoin DL, Mäkitie O, Kaitila I. Ridanpää M, et al. Among authors: rockas s. Eur J Hum Genet. 2002 Jul;10(7):439-47. doi: 10.1038/sj.ejhg.5200824. Eur J Hum Genet. 2002. PMID: 12107819

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

Ridanpää M, Ward LM, Rockas S, Särkioja M, Mäkelä H, Susic M, Glorieux FH, Cole WG, Mäkitie O. Ridanpää M, et al. Among authors: rockas s. J Med Genet. 2003 Oct;40(10):741-6. doi: 10.1136/jmg.40.10.741. J Med Genet. 2003. PMID: 14569119 Free PMC article.

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