(Q44628881)

4 December 2017

title

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

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4 December 2017

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A Zimran

1

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4 December 2017

J Sorge

2

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4 December 2017

E Gross

3

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4 December 2017

M Kubitz

4

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4 December 2017

C West

5

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4 December 2017

E Beutler

6

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4 December 2017

language of work or name

English

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publication date

1 August 1989

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4 December 2017

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4 December 2017

volume

2

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4 December 2017

issue

8659

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4 December 2017

page(s)

349-352

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Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease

4 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

Cross-reacting material in Gaucher disease fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

The human glucocerebrosidase gene and pseudogene: structure and evolution

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

Detection of sickle cell anaemia and thalassaemias

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https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

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https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

A new method for sequencing DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

Oligonucleotide hybridization techniques

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

7 January 2021

https://api.crossref.org/works/10.1016%2FS0140-6736%2889%2990536-9

1 reference

7 January 2021

10.1016/S0140-6736(89)90536-9

Identifiers

DOI

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4 December 2017

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