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Variable phenotypes are associated with PMP22 missense mutations

✍ Scribed by M. Russo; M. Laurá; J.M. Polke; M.B. Davis; J. Blake; S. Brandner; R.A.C. Hughes; H. Houlden; D.L.H. Bennett; M.P.T. Lunn; M.M. Reilly

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📜 SIMILAR VOLUMES

A novel stop codon mutation in the PMP22

✍ K.T Abe; A.M.M Lino; M.T.A Hirata; R.C.M Pavanello; M.W.I Brotto; P.E Marchiori; 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 306 KB

P61 Diverse phenotypes are associated wi

✍ M. Russo; M. Laurá; J.M. Polke; M.B. Davis; J. Blake; S. Bradner; H. Houlden; M. 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 44 KB

Severe phenotype with cis-acting heteroz

✍ D Niedrist; F Joncourt; G Mátyás; A Müller 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 83 KB

Variable phenotypes associated with muta

✍ Jennifer A. Anderson; Jarae J. Ng; Constance Bowe; Craig Mcdonald; David P. Rich 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 231 KB

Two families with novel PMP22 point muta

✍ Chiara Pisciotta; Fiore Manganelli; Rosa Iodice; Emilia Bellone; Alessandro Gero 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 519 KB

SPINK1 Mutations Are Associated with Mul

✍ Pfützer, Roland H.; Whitcomb, David C. 📂 Article 📅 2001 🏛 S. Karger AG 🌐 English ⚖ 66 KB