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Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene

✍ Scribed by R.A.C van de Wetering; A.A.W.M Gabreëls-Festen; V Timmerman; G.W Padberg; F.J.M Gabreëls; E.C.M Mariman

Book ID: 117669570
Publisher: Elsevier Science
Year: 2002
Tongue: English
Weight: 101 KB
Volume: 12
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(02)00025-1

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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