✦ LIBER ✦

Cartilage-hair hypoplasia caused by novel compound heterozygousRMRPmutations

✍ Scribed by Kerstin Reicherter; Amithkumar Iynapillai Veeramani; Sujatha Jagadeesh

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel Mutation in Boy With Cartilage-hai

✍ I-Chun Lin; Hong-Ren Yu; Ying-Jui Lin; Tzu-Jou Wang 📂 Article 📅 2010 🏛 Elsevier 🌐 English ⚖ 229 KB

A novel RMRP mutation in a Spanish patie

✍ Jorge Muñoz-Robles; Luis Miguel Allende; Julian Clemente; Sara Calleja; Pilar Va 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 155 KB

Cartilage-hair hypoplasia gene assigned

✍ Sulisalo, Tuija; 2, Pertti; Hästbacka, Johanna; Wadelius, Claes; Mäkitie, Outi; 📂 Article 📅 1993 🏛 Nature Publishing Group 🌐 English ⚖ 386 KB

Cartilage hair hypoplasia and celiac dis

✍ Singh, Ankur; Krishnan, Rajeshwari; Bhattacharya, Malobika; Pradhan, Gaurav; Sal 📂 Article 📅 2013 🏛 Springer-Verlag 🌐 English ⚖ 162 KB

Mutations in the RNA Component of RNase

✍ Maaret Ridanpää; Hans van Eenennaam; Katarina Pelin; Robert Chadwick; Cheryl Joh 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 535 KB

Late-onset adrenal hypoplasia congenita

✍ Fan Yang; Keiichi Hanaki; Tomoe Kinoshita; Yuki Kawashima; Jun-ichi Nagaishi; Su 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 112 KB