Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.
about
p38 MAPK regulates PKAα and CUB-serine protease in Amphibalanus amphitrite cyprids.Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE geneHeptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.Anti-Atherosclerotic Action of Agmatine in ApoE-Knockout Mice.Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
P2860
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Homozygous nonsense mutation i ...... f mild methylmalonic aciduria.
@en
type
label
Homozygous nonsense mutation i ...... f mild methylmalonic aciduria.
@en
prefLabel
Homozygous nonsense mutation i ...... f mild methylmalonic aciduria.
@en
P2093
P1476
Homozygous nonsense mutation i ...... f mild methylmalonic aciduria.
@en
P2093
Abigail Gradinger
C Melissa Dobson
Caroline Belair
Daniel Leclerc
David S Rosenblatt
David Watkins
Jordan Lerner-Ellis
Melissa Lemieux
Nicola Longo
Roy A Gravel
P304
P356
10.1016/J.YMGME.2006.03.009
P577
2006-05-11T00:00:00Z