Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia von Ridanpää, Maaret, van Eenennaam, Hans, Pelin, Katarina, Chadwick, Robert, Johnson, Cheryl, Yuan, Bo, vanVenrooij, Walther, Pruijn, Ger, Salmela, Riika, Rockas, Susanna, Mäkitie, Outi, Kaitila, Ilkka, de la Chapelle, Albert

Volltext

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A1G mutation of the untranslated RMRP von Ridanpaeae, Maaret, Sistonen, Pertti, Rockas, Susanna, Rimoin, David L, Maekitie, Outi, Kaitila, Ilkka

Volltext

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP von Ridanpää, Maaret, Sistonen, Pertti, Rockas, Susanna, Rimoin, David L, Mäkitie, Outi, Kaitila, Ilkka

Volltext