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Null mutations of P3H1 cause recessive OI_like bone dysplasia

✍ Scribed by W.A. Cabral; W. Chang; A.M. Barnes; D.R. Eyre; M.A. Weis; S. Leikin; E. Makareeva; N.V. Kuznetsova; D.I. Bulas; J.C. Marini

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Mutations in the human homologue of mous

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P3-224: Clinical phenotype of familial A

✍ Gómez-Tortosa, Estrella; Manzano, Sagrario; Muñoz, David G.; Sainz, M. José; Jim 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 60 KB

Q118X mutation of M1S1 gene caused gelat

✍ Nguyen Thanh Ha; Keiko Fujiki; Yoshihiro Hotta; Kiyoo Nakayasu; Atsushi Kanai 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 238 KB