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A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype

✍ Scribed by Carlos Casasnovas; Isabel Banchs; Laura De Jorge; Maria Antónia albertí; Yolanda Martínez–Campo; Mónica Povedano; Jordi Montero; Victor Volpini


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
425 KB
Volume
45
Category
Article
ISSN
0148-639X

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## Abstract Hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a deletion in chromosome 17p 11.2, which includes the gene for the peripheral myelin protein 22 (PMP‐22). A “gene dosage” effect is probably the mechanism underlying HNPP, but the amount of PMP‐22 mRNA in

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