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Two families with novel PMP22 point mutations: genotype–phenotype correlation

✍ Scribed by Chiara Pisciotta; Fiore Manganelli; Rosa Iodice; Emilia Bellone; Alessandro Geroldi; Nila Volpi; Paola Mandich; Lucio Santoro


Book ID
109116307
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
519 KB
Volume
14
Category
Article
ISSN
1085-9489

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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