3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.
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Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report3-Hydroxy-3-methylglutaric and 3-methylglutaric acids impair redox status and energy production and transfer in rat heart: relevance for the pathophysiology of cardiac dysfunction in 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.Molecular basis of 3-hydroxy-3-methylglutaric aciduria.3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy.
P2860
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.
description
2001 nî lūn-bûn
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2001年の論文
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2001年学术文章
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name
3-Hydroxy-3-methylglutaric aci ...... se mutation in the HMGCL gene.
@en
3-Hydroxy-3-methylglutaric aci ...... se mutation in the HMGCL gene.
@nl
type
label
3-Hydroxy-3-methylglutaric aci ...... se mutation in the HMGCL gene.
@en
3-Hydroxy-3-methylglutaric aci ...... se mutation in the HMGCL gene.
@nl
prefLabel
3-Hydroxy-3-methylglutaric aci ...... se mutation in the HMGCL gene.
@en
3-Hydroxy-3-methylglutaric aci ...... se mutation in the HMGCL gene.
@nl
P2093
P356
P1476
3-Hydroxy-3-methylglutaric aci ...... nse mutation in the HMGCL gene
@en
P2093
Cappellini M
Funghini S
Pasquini E
Zammarchi E
P304
P356
10.1006/MGME.2001.3191
P577
2001-07-01T00:00:00Z