A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease
Published 2013 View Full Article
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Title
A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease
Authors
Keywords
Nonsense mutation, Immunoprecipitation, Fibroblasts, Immune deficiency, Paraplegia, Electrophoretic mobility shift assay, Twins, Mutation detection
Journal
PLoS One
Volume 8, Issue 3, Pages e58286
Publisher
Public Library of Science (PLoS)
Online
2013-03-06
DOI
10.1371/journal.pone.0058286
References
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