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New mutation of the MPZ gene in a family with the Dejerine–Sottas disease phenotype

✍ Scribed by Paraskewi Floroskufi; Marios Panas; Georgia Karadima; Demetris Vassilopoulos


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
61 KB
Volume
35
Category
Article
ISSN
0148-639X

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Four novel point mutations in the PMP22
✍ Dana Brožková; Radim Mazanec; Zdeněk Rychlý; Jana Haberlová; Jiří Böhm; Jan Stan 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 350 KB

## Abstract We report four novel point mutations in the __PMP22__ gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine–Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320‐1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our fi