(Q68082712)

English

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form

scientific article published on 01 January 1990

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scholarly article

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1967589%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1967589%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Gaucher's disease

1 reference

based on heuristic

inferred from title

author name string

M Masuno

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1967589%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

S Tomatsu

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1967589%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

K Sukegawa

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1967589%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

T Orii

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1967589%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

publication date

1 January 1990

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1967589%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1967589%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

84

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1967589%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1967589%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

203-206

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1967589%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

The human glucocerebrosidase gene and pseudogene: structure and evolution

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural analysis of the human glucocerebrosidase genes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glucocerebrosidase "processing" and gene expression in various forms of Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cross-reacting material in Gaucher disease fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restriction fragment length polymorphism analysis in healthy Japanese individuals and Japanese families with Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of Gaucher's disease phenotypes with monoclonal antibody

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular biology of Gaucher disease and the potential for gene therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of mutations in Gaucher patients by cDNA cloning

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/1967589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00208943

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1967589%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1967589%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

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