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

标题
A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings
作者
关键词
Hereditary spastic paraplegia, X-linked adrenoleukodystrophy, Adrenomyeloneuropathy, ABCD1, Novel mutation, Next generation sequencing
出版物
JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume 355, Issue 1-2, Pages 199-201
出版商
Elsevier BV
发表日期
2015-05-29
DOI
10.1016/j.jns.2015.05.031

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