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A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings. (2015)

First Author: Koutsis G

Attributed to: Using Next Generation Sequencing to Unravel the Pathogenesis of Sporadic Inclusion Body Myositis - The International IBM Consortium Genetic Study funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.jns.2015.05.031

PubMed Identifier: 26049658

Publication URI: http://europepmc.org/abstract/MED/26049658

Type: Journal Article/Review

Volume: 355

Parent Publication: Journal of the neurological sciences

Issue: 1-2

ISSN: 0022-510X