Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases
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Mitochondrial carbonic anhydrase (isozyme V) in mouse and rat: cDNA cloning, expression, subcellular localization, processing, and tissue distributionHuman mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosisHuman beta-galactosidase gene mutations in morquio B diseaseGM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patientsEmerging novel concept of chaperone therapies for protein misfolding diseasesCrystal Structure of Human -Galactosidase: STRUCTURAL BASIS OF GM1 GANGLIOSIDOSIS AND MORQUIO B DISEASESPartial rescue of human carbonic anhydrase II frameshift mutation by ribosomal frameshift.Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activitiesMutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.Structural basis of pharmacological chaperoning for human β-galactosidase.Expression, purification, crystallization and preliminary X-ray crystallographic analysis of human β-galactosidase.Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts.Carrier rates of four single-gene disorders in Croatian Bayash Roma.Kinetic mechanism and characterization of human beta-galactosidase precursor secreted by permanently transfected Chinese hamster ovary cellsGLB1 hydrolyses a glycosaminoglycanGLB1 hydrolyses linker chain(2)Beta-galactosidase hydrolyses GM1 to GM2
P2860
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P2860
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases
description
1991 nî lūn-bûn
@nan
1991 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Human beta-galactosidase gene ...... g Japanese adult/chronic cases
@ast
Human beta-galactosidase gene ...... g Japanese adult/chronic cases
@en
Human beta-galactosidase gene ...... g Japanese adult/chronic cases
@nl
type
label
Human beta-galactosidase gene ...... g Japanese adult/chronic cases
@ast
Human beta-galactosidase gene ...... g Japanese adult/chronic cases
@en
Human beta-galactosidase gene ...... g Japanese adult/chronic cases
@nl
prefLabel
Human beta-galactosidase gene ...... g Japanese adult/chronic cases
@ast
Human beta-galactosidase gene ...... g Japanese adult/chronic cases
@en
Human beta-galactosidase gene ...... g Japanese adult/chronic cases
@nl
P2093
P2860
P1476
Human beta-galactosidase gene ...... g Japanese adult/chronic cases
@en
P2093
H Sakuraba
M Shimmoto
N Yanagisawa
Y Fukuhara
P2860
P304
P407
P577
1991-08-01T00:00:00Z