A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression
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A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 07 March 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A novel HSD17B10 mutation impa ...... neurodevelopmental regression
@en
A novel HSD17B10 mutation impa ...... neurodevelopmental regression.
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type
label
A novel HSD17B10 mutation impa ...... neurodevelopmental regression
@en
A novel HSD17B10 mutation impa ...... neurodevelopmental regression.
@nl
prefLabel
A novel HSD17B10 mutation impa ...... neurodevelopmental regression
@en
A novel HSD17B10 mutation impa ...... neurodevelopmental regression.
@nl
P2093
P2860
P50
P1433
P1476
A novel HSD17B10 mutation impa ...... neurodevelopmental regression
@en
P2093
Elizabeth McCormick
Emily Place
Howard B Gamper
Mark Consugar
Megumi Shigematsu
Ryuichi Takase
Thomas Christian
Xiaowu Gai
P2860
P304
P356
10.1080/15476286.2016.1159381
P577
2016-03-07T00:00:00Z