A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Cho, Sun-Mi, Hong, Bo Young, Kim, Yoonjung, Lee, Sang Guk, Yang, Jin-Young, Kim, Juwon, Lee, Kyung-A
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2014
Assuntos:
Acesso em linha: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: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!