A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant
about
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants.A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.High-level expression of a novel thermostable and mannose-tolerant β-mannosidase from Thermotoga thermarum DSM 5069 in Escherichia coli.The α-endomannosidase gene (MANEA) is associated with panic disorder and social anxiety disorderNetwork Diffusion-Based Prioritization of Autism Risk Genes Identifies Significantly Connected Gene Modules.Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.
P2860
Q28268861-FFBC06B3-F7F2-4DEA-8F10-2AE1D4D14D6BQ30366137-B2064316-4F9C-41FA-9317-451704657432Q30513706-5C9C412B-EB89-4EE6-897A-959ED545FC84Q31141057-035AFDB4-BEB9-4BFB-9742-FC124836590CQ37526439-B57FD4FA-7C9E-479D-A991-85EA83022B68Q42368125-C7224212-FA4B-40D7-A5A7-A320F16B1391Q49858412-0A021006-9214-40EE-9056-42F23498D250
P2860
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant
description
2009 nî lūn-bûn
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2009 թուականին հրատարակուած գիտական յօդուած
@hyw
2009 թվականին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
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2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
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name
A MANBA mutation resulting in ...... sible pseudodeficiency variant
@ast
A MANBA mutation resulting in ...... sible pseudodeficiency variant
@en
A MANBA mutation resulting in ...... sible pseudodeficiency variant
@en-gb
A MANBA mutation resulting in ...... sible pseudodeficiency variant
@nl
type
label
A MANBA mutation resulting in ...... sible pseudodeficiency variant
@ast
A MANBA mutation resulting in ...... sible pseudodeficiency variant
@en
A MANBA mutation resulting in ...... sible pseudodeficiency variant
@en-gb
A MANBA mutation resulting in ...... sible pseudodeficiency variant
@nl
altLabel
A MANBAmutation resulting in r ...... sible pseudodeficiency variant
@en
prefLabel
A MANBA mutation resulting in ...... sible pseudodeficiency variant
@ast
A MANBA mutation resulting in ...... sible pseudodeficiency variant
@en
A MANBA mutation resulting in ...... sible pseudodeficiency variant
@en-gb
A MANBA mutation resulting in ...... sible pseudodeficiency variant
@nl
P2093
P2860
P356
P1433
P1476
A MANBA mutation resulting in ...... sible pseudodeficiency variant
@en
P2093
Dimitri Renard
Frédérique Sabourdy
Giovanni Castelnovo
Hilde Monica Frostad Riise Stensland
Michèle Nieto
Nicolas de Champfleur
Pierre Labauge
Thierry Levade
Violeta Latorre Garcés
P2860
P2888
P356
10.1186/1471-2350-10-84
P407
P577
2009-01-01T00:00:00Z
P5875
P6179
1013665175