Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals (Q33564845)

28 July 2017

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

1 reference

28 July 2017

1 reference

1 reference

S. Tsuji

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3353383

30 December 2022

B. M. Martin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3353383

30 December 2022

J. A. Barranger

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3353383

30 December 2022

B. K. Stubblefield

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3353383

30 December 2022

M. E. LaMarca

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3353383

30 December 2022

E. I. Ginns

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3353383

30 December 2022

language of work or name

English

0 references

publication date

1 April 1988

1 reference

28 July 2017

4

1 reference

full work available at URL

inferred from page(s)

https://europepmc.org/articles/PMC279989

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3353383

https://europepmc.org/articles/PMC279989?pdf=render

30 December 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3353383

https://pnas.org/doi/pdf/10.1073/pnas.85.7.2349

30 December 2022

1 reference

Crossref

DOI

10.1073/PNAS.85.7.2349

https://api.crossref.org/works/10.1073/PNAS.85.7.2349

Proceedings of the National Academy of Sciences of the United States of America

30 December 2022

published in

1 reference

28 July 2017

85

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28 July 2017

2349-2352

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28 July 2017

7

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279989

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279989

Biochemical studies in a patient with subacute neuropathic Gaucher disease without visceral glucosylceramide storage.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279989

Cross-reacting material in Gaucher disease fibroblasts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279989

Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279989

A cDNA cloning vector that permits expression of cDNA inserts in mammalian cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279989

Enchancement of the infectivity of simian virus 40 deoxyribonucleic acid with diethylaminoethyl-dextran.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279989

Supercoil sequencing: a fast and simple method for sequencing plasmid DNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279989

Biosynthesis of the lysosomal enzyme glucocerebrosidase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279989

Evaluation of "at risk" alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279989

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279989

DNA sequencing with chain-terminating inhibitors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279989

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279989

Determination of Gaucher's disease phenotypes with monoclonal antibody

28 July 2018

1 reference

12 December 2020

32 Oligonucleotide-directed mutagenesis of DNA fragments cloned into M13 vectors

1 reference

12 December 2020

Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single "Gaucher gene"

1 reference

12 December 2020

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

12 December 2020

Allele-specific hybridization using oligonucleotide probes of very high specific activity: discrimination of the human beta A- and beta S-globin genes

1 reference

12 December 2020

Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.85.7.2349

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/isje5gqhtjgdpaiipulwp6qetq

30 July 2022

release_isje5gqhtjgdpaiipulwp6qetq

ADS bibcode

1988PNAS...85.2349T

0 references

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/isje5gqhtjgdpaiipulwp6qetq

30 July 2022

https://api.fatcat.wiki/v0/release/isje5gqhtjgdpaiipulwp6qetq

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/isje5gqhtjgdpaiipulwp6qetq

1 reference

30 July 2022