(Q67931483)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1864608%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

title

Three unique base pair changes in a family with Gaucher disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1864608%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

1 reference

12 December 2022

1 reference

N. Eyal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1864608

12 December 2022

N. Firon

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1864608

12 December 2022

S. Wilder

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1864608

12 December 2022

E. H. Kolodny

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1864608

12 December 2022

M. Horowitz

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1864608

12 December 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1864608

12 December 2022

publication date

1 July 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1864608%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

19 September 2019

http://link.springer.com/content/pdf/10.1007/BF00200914.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00200914/fulltext.html

12 December 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00200914

12 December 2022

1 reference

12 December 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1864608%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

volume

87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1864608%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

page(s)

328-332

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1864608%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1864608%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00200914

19 September 2019

exact match

0 references

cites work

The human glucocerebrosidase gene and pseudogene: structure and evolution

1 reference

12 December 2020

Structural analysis of the human glucocerebrosidase genes.

1 reference

12 December 2020

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

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

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease

1 reference

12 December 2020

Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides

1 reference

12 December 2020

Myoclonic epilepsy of Lafora and arylsulphatase A deficiency in the same patient

1 reference

12 December 2020

Purification and properties of a heat-stable glucocerebrosidase activating factor from control and Gaucher spleen

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Quantitative analysis of plasma neutral glycosphingolipids by high performance liquid chromatography of their perbenzoyl derivatives

1 reference

12 December 2020

Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences

1 reference

12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

12 December 2020

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

1 reference

12 December 2020

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

12 December 2020

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

12 December 2020

Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA.

1 reference

12 December 2020

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Improved M13 phage cloning vectors and host strains: nucleotide sequences of the M13mp18 and pUC19 vectors

1 reference

12 December 2020

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1 reference

12 December 2020

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

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

Prevalent and rare mutations among Gaucher patients

1 reference

12 December 2020

Characterization of mutations in Gaucher patients by cDNA cloning

1 reference

12 December 2020

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

1 reference

12 December 2020

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00200914

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1864608%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

19 September 2019

0 references

1 reference