(Q35194977)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference

Horowitz M

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Tzuri G

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Eyal N

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Berebi A

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Kolodny EH

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Brady RO

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Barton NW

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Abrahamov A

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Zimran A

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

language of work or name

English

0 references

publication date

1 October 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

921-930

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

Identification of six new Gaucher disease mutations

27 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

Assignment of the gene for acid beta-glucosidase to human chromosome 1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

The human glucocerebrosidase gene and pseudogene: structure and evolution

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

Saposin A: second cerebrosidase activator protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

Characterization of mutations in Gaucher patients by cDNA cloning

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

Sequence of two alleles responsible for Gaucher disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

Mutations in Jewish patients with Gaucher disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

Identity of beta-glucosidase, beta-xylosidase and one of the beta-galactosidase activities in human liver when assayed with 4-methylumbelliferyl-beta-D-glycosides studies in cases of Gaucher's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682396

Oculomotor apraxia: the presenting sign of Gaucher disease

27 September 2018

1 reference

12 December 2020

24 Assay of enzymes of lipid metabolism with colored and fluorescent derivatives of natural lipids

1 reference

12 December 2020

Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies

1 reference

12 December 2020

Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations

1 reference

12 December 2020

Prevalent and rare mutations among Gaucher patients

1 reference

12 December 2020

1 reference

12 December 2020

Complete amino-acid sequence and carbohydrate content of the naturally occurring glucosylceramide activator protein (A1 activator) absent from a new human Gaucher disease variant

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213821%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

PubMed publication ID

8213821

1 reference