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Deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene in hereditary neuropathy with liability to pressure palsies

✍ Scribed by Fujio Umehara; Takashirou Kiwaki; Hiroo Yoshikawa; Tomoya Nishimura; Masanori Nakagawa; Wataru Matsumoto; Ken-ichiro Hashimoto; Shuji Izumo; Yumiko Arimura; Kimiyoshi Arimura; Masaru Kuriyama; Mitsuhiro Osame

Book ID: 118932315
Publisher: Elsevier Science
Year: 1995
Tongue: English
Weight: 740 KB
Volume: 133
Category: Article
ISSN: 0022-510X
DOI: 10.1016/0022-510x(95)00188-8

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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