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RMRP mutations in Japanese patients with cartilage-hair hypoplasia

✍ Scribed by Nakashima, Eiji ;Mabuchi, Akihiko ;Kashimada, Kenichi ;Onishi, Toshikazu ;Zhang, Junwei ;Ohashi, Hirofumi ;Nishimura, Gen ;Ikegawa, Shiro


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
96 KB
Volume
123A
Category
Article
ISSN
0148-7299

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RMRP mutations in cartilage-hair hypopla
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## Abstract Cartilage hair hypoplasia (CHH) or McKusick type metaphyseal chondrodysplasia (MCD) (OMIM # 250250) is due to either the homozygous or compound heterozygous mutations in the nuclear encoded, non‐coding RNA gene __RMRP__. Twenty‐seven CHH patients were referred for molecular evaluation o