Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state
about
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's diseaseDisease-specific induced pluripotent stem cellsPolymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.False-positive results using a Gaucher diagnostic kit--RecTL and N370SRole of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.Systematic approach to the diagnosis of lysosomal storage disorders.High-throughput real-time PCR-based genotyping without DNA purification.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.Carrier 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.Gaucher disease as a paradigm of current issues regarding single gene mutations of humansGlucocerebrosidase mutations in Gaucher disease.Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).Gaucher disease paradigm: from ERAD to comorbidity.Modelling long-term evolution of chitotriosidase in non-neuronopathic Gaucher disease.Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes.Unfolded protein response in Gaucher disease: from human to Drosophila.Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.Functional antibody deficiency in a patient with type I Gaucher disease.Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study.Gaucher disease mutations in non-Jewish patients.The contribution of mutant GBA to the development of Parkinson disease in Drosophila.
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Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state
description
article científic
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article scientifique
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articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on December 1991
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Identification of the second c ...... ing for the heterozygous state
@en
Identification of the second c ...... ng for the heterozygous state.
@nl
type
label
Identification of the second c ...... ing for the heterozygous state
@en
Identification of the second c ...... ng for the heterozygous state.
@nl
prefLabel
Identification of the second c ...... ing for the heterozygous state
@en
Identification of the second c ...... ng for the heterozygous state.
@nl
P2093
P2860
P356
P1476
Identification of the second c ...... ing for the heterozygous state
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P2093
P2860
P304
10544-10547
P356
10.1073/PNAS.88.23.10544
P407
P577
1991-12-01T00:00:00Z