A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
about
Detection and characterization of small insertion and deletion genetic variants in modern layer chicken genomes.Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.A molecular model for neurodevelopmental disorders.Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
P2860
A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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name
A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
@en
A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
@nl
type
label
A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
@en
A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
@nl
prefLabel
A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
@en
A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
@nl
P50
P1476
A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease
@en
P2093
Kengo Moriyama
Mio Watanabe
P304
P356
10.1016/J.BRAINDEV.2014.06.011
P577
2014-07-16T00:00:00Z