## 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 DejerineโSottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320โ1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our fi
A comment on novel mutation in the PMP22 gene causing an axonal neuropathy
โ Scribed by Viroj Wiwanitkit
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 153 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0148-639X
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