Ridanpää M, Sistonen P, Rockas S, Rimoin DL, Mäkitie O, Kaitila I. Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP. European Journal of Human Genetics. 2002 Jul 03;10(7):439–47. doi: 10.1038/sj.ejhg.5200824.