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A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

✍ Scribed by M. Luigetti; G.M. Fabrizi; F. Madia; M. Ferrarini; A. Conte; A. Del Grande; G. Tasca; P.A. Tonali; M. Sabatelli

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

HSPB1 and HSPB8 in inherited neuropathie

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SEIPIN S90L Mutation in an Italian famil

✍ M. Luigetti; G.M. Fabrizi; F. Madia; M. Ferrarini; A. Conte; A. Delgrande; P.A. 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB

A novel autosomal dominant GDAP1 mutatio

✍ Fiore Manganelli; Chiara Pisciotta; Maria Nolano; Simona Capponi; Alessandro Ger 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 778 KB

Complex phenotype in an Italian family w

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Novel mutations in GCK and HNF1A genes i

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A novel GJB1 mutation in an Italian pati

✍ Marco Luigetti; Gian Maria Fabrizi; Federico Ranieri; Federica Taioli; Amelia Co 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 101 KB