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- W2067164009 abstract "Hereditary neuropathy with liability to pressure palsies is associated with a deficiency in the Peripheral Myelin Protein 22 (PMP22). Most hereditary neuropathy with liability to pressure palsies cases are caused by a deletion of a 1.5 Mb region on chromosome 17p11.2-12 encompassing the PMP22 gene. We describe a hereditary neuropathy with liability to pressure palsies family that lacks the common deletion, but carries a small deletion spanning the 3' region of the PMP22 gene, causing only a partial deletion of one copy of the gene." @default.
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- W2067164009 date "2002-10-01" @default.
- W2067164009 modified "2023-10-14" @default.
- W2067164009 title "Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene" @default.
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- W2067164009 doi "https://doi.org/10.1016/s0960-8966(02)00025-1" @default.
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