(Q67993235)

English

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

scientific article published on 01 November 1992

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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:1487244%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1487244%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

Gaucher's disease

1 reference

based on heuristic

inferred from title

2

object named as

Y Hasegawa

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1487244%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

author name string

H Kawame

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1487244%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

Y Eto

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1487244%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

K Maekawa

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1487244%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

publication date

1 November 1992

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1487244%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1487244%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

90

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1487244%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1487244%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

294-296

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1487244%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

https://scigraph.springernature.com/pub.10.1007/bf00220082

0 references

The human glucocerebrosidase gene and pseudogene: structure and evolution

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex alleles of the acid beta-glucosidase gene in Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487244

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/1487244

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/1487244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protocols for an improved detection of point mutations by SSCP

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487244

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/1487244

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/1487244

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/1487244

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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