(Q72333228)

English

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations

scientific article published on 01 June 1995

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Gaucher's disease

1 reference

based on heuristic

inferred from title

author name string

H Ida

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

K Iwasawa

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

H Kawame

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

O M Rennert

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

K Maekawa

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Y Eto

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

publication date

1 June 1995

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

95

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

717-720

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00209497

0 references

Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease: new molecular approaches to diagnosis and treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease mutations in non-Jewish patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence of two alleles responsible for Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease: gene frequencies in the Ashkenazi Jewish population

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult-type Gaucher disease in children: genetics, clinical features and enzyme replacement therapy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

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/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis of 28 Gaucher disease patients: the Australasian experience

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in Jewish patients with Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Founder effect of a prevalent phenylketonuria mutation in the Oriental population

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state

1 reference

https://pubmed.ncbi.nlm.nih.gov/7789963

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/7789963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00209497

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789963%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

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