Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E) Proptose em uma família com a mutacão p16 Leuc-to-Prol no gene PMP22 (CMT1E)
Main Authors: | Leandro Calia, Wilson Marques Jr., Silmara P. Gouvea, Charles Marques Lourenço, Acary S. B. de Oliveira |
---|---|
Format: | Article |
Language: | English |
Published: |
Academia Brasileira de Neurologia (ABNEURO)
2013-05-01
|
Series: | Arquivos de Neuro-Psiquiatria |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000500332 |
Similar Items
-
Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E)
by: Leandro Calia, et al.
Published: (2013-05-01) -
PMP22 Accumulation in Aggresomes: Implications for CMT1A Pathology
by: Lucia Notterpek, et al.
Published: (1999-10-01) -
A Rapid and Reliable Detection System for the Analysis of CMT1A/HNPP disease causing factor -PMP22 Gene by Multiplex PCR/DHPLC Assay
by: Chia-Yun Lin, et al.
Published: (2005) -
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
by: Kishin Koh, et al.
Published: (2021-02-01) -
Functional analysis of the Arabidopsis ABA-regulated PMP22L gene promoter
by: Ying-Zhang Syue, et al.
Published: (2006)