Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Case Rep Genet
Autori principali: Cho, Sun-Mi, Hong, Bo Young, Kim, Yoonjung, Lee, Sang Guk, Yang, Jin-Young, Kim, Juwon, Lee, Kyung-A
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hindawi Publishing Corporation 2014
Soggetti:
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !