Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal neuropathy that is commonly caused by a reciprocal 1.5 Mb deletion on chromosome 17p11.2, at the site of the peripheral myelin protein 22 (PMP22) gene. Other patients with similar phenotypes have been shown to harbor poi...

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Vydáno v:Case Rep Genet
Hlavní autoři: Cho, Sun-Mi, Hong, Bo Young, Kim, Yoonjung, Lee, Sang Guk, Yang, Jin-Young, Kim, Juwon, Lee, Kyung-A
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2014
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4258352/
https://ncbi.nlm.nih.gov/pubmed/25506001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/946010
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