S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.
about
Crystal structure of the S187F variant of human liver alanine: Aminotransferase associated with primary hyperoxaluria type I and its functional implicationsTreatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector.Structural mimicry between SLA/LP and Rickettsia surface antigens as a driver of autoimmune hepatitis: insights from an in silico study.Interaction of human Dopa decarboxylase with L-Dopa: spectroscopic and kinetic studies as a function of pH.A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.
P2860
S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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name
S250F variant associated with ...... cellular rescue by pyridoxine.
@en
S250F variant associated with ...... cellular rescue by pyridoxine.
@nl
type
label
S250F variant associated with ...... cellular rescue by pyridoxine.
@en
S250F variant associated with ...... cellular rescue by pyridoxine.
@nl
prefLabel
S250F variant associated with ...... cellular rescue by pyridoxine.
@en
S250F variant associated with ...... cellular rescue by pyridoxine.
@nl
P2093
P2860
P356
P1476
S250F variant associated with ...... acellular rescue by pyridoxine
@en
P2093
Alessandro Roncador
Barbara Cellini
Carla Borri Voltattorni
Mirco Dindo
Riccardo Montioli
P2860
P304
P356
10.1093/HMG/DDT011
P50
P577
2013-01-15T00:00:00Z