(Q24678565)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1897529%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

title

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1897529%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

1 reference

A Zimran

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1897529%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

T Gelbart

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1897529%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

B Westwood

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1897529%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

G A Grabowski

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1897529%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

E Beutler

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1897529%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

language of work or name

English

0 references

publication date

1 October 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1897529%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

20 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1897529%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1897529%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

page(s)

855-859

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1897529%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1897529%20AND%20SRC:MED&resulttype=core&format=json

Gaucher's disease without splenomegaly. Oldest patient on record, with review.

20 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683177

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683177

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683177

Gaucher disease: molecular heterogeneity and phenotype-genotype correlations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683177

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683177

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683177

Prediction of severity of Gaucher's disease by identification of mutations at DNA level

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683177

The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683177

Detection of the 1226 (Jewish) mutation for Gaucher's disease by color PCR. A means for studying the gene frequency of the disorder

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683177

Designed diagnostic restriction fragment length polymorphisms for the detection of point mutations in ras oncogenes

28 November 2018

1 reference

12 December 2020

Misuse of marrow examination in the diagnosis of Gaucher disease

1 reference

12 December 2020

Gaucher's disease: unexpected diagnosis in three patients over seventy years old

1 reference

12 December 2020

Gaucher's Disease in an Asymptomatic 72-Year-Old

1 reference

12 December 2020

The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes

1 reference

12 December 2020

Identifiers

2581147

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

2581147

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1897529%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

2 references

Consolidated OpenCitations Corpus – April 2017

2581147