Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
about
Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher diseaseFactor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutationsA glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorderGaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase geneHigh frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi JewsMolecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTSRole of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequencesSystematic approach to the diagnosis of lysosomal storage disorders.Characterization of mutations in Gaucher patients by cDNA cloning.Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patientsGaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes.Gaucher disease: molecular heterogeneity and phenotype-genotype correlations.Adult and infantile glycogenosis type II in one family, explained by allelic diversity.Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene.Complex alleles of the acid beta-glucosidase gene in Gaucher disease.Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening programPosttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblastsCarrier testing for autosomal-recessive disorders.Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.Gaucher disease as a paradigm of current issues regarding single gene mutations of humansGlucocerebrosidase mutations in Gaucher disease.Newborn screening for lysosomal storage disorders in hungary.Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous stateAcid beta-glucosidase: enzymology and molecular biology of Gaucher disease.Gaucher disease paradigm: from ERAD to comorbidity.Mutations in GBA and risk of Parkinson's disease: a meta-analysis based on 25 case-control studies.Glucosylsphingosine promotes α-synuclein pathology in mutant GBA-associated Parkinson's disease.Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance.Gaucher disease: Progress and ongoing challenges.Unfolded protein response in Gaucher disease: from human to Drosophila.Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.Galactocerebrosidase activity in somatic cell hybrids derived from twitcher mouse/control human fibroblasts is associated with human chromosome 17.
P2860
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P2860
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
description
1988 nî lūn-bûn
@nan
1988 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Genetic heterogeneity in type ...... nd non-Ashkenazic individuals.
@ast
Genetic heterogeneity in type ...... nd non-Ashkenazic individuals.
@en
Genetic heterogeneity in type ...... nd non-Ashkenazic individuals.
@nl
type
label
Genetic heterogeneity in type ...... nd non-Ashkenazic individuals.
@ast
Genetic heterogeneity in type ...... nd non-Ashkenazic individuals.
@en
Genetic heterogeneity in type ...... nd non-Ashkenazic individuals.
@nl
prefLabel
Genetic heterogeneity in type ...... nd non-Ashkenazic individuals.
@ast
Genetic heterogeneity in type ...... nd non-Ashkenazic individuals.
@en
Genetic heterogeneity in type ...... nd non-Ashkenazic individuals.
@nl
P2093
P2860
P356
P1476
Genetic heterogeneity in type ...... nd non-Ashkenazic individuals.
@en
P2093
Barranger JA
LaMarca ME
Stubblefield BK
P2860
P304
P356
10.1073/PNAS.85.7.2349
P407
P577
1988-04-01T00:00:00Z