We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with Dkjkrine-Sottas neuropathy. Single-stranded conformation analysis of PCR-amplified D N A fragments showed an additional fragment for exon 1 in the patient, which was absent in the unaffected parents. Seq
A novel RAB7 mutation associated with ulcero-mutilating neuropathy
β Scribed by Henry Houlden; Rosalind H. M. King; John R. Muddle; Thomas T. Warner; Mary M. Reilly; Richard W. Orrell; Lionel Ginsberg
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 320 KB
- Volume
- 56
- Category
- Article
- ISSN
- 0364-5134
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