Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene (Q24676872)

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English	Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene	scientific article

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instance of

scholarly article

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title

Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene (English)

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main subject

Gaucher's disease

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based on heuristic

inferred from title

author name string

N Dahl

series ordinal

1

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M Lagerström

series ordinal

2

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A Erikson

series ordinal

3

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U Pettersson

series ordinal

4

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language of work or name

English

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publication date

August 1990

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published in

American Journal of Human Genetics

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volume

47

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issue

2

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page(s)

275-8

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cites work

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

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PubMed Central

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7 April 2017

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

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7 April 2017

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7 April 2017

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

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PubMed Central

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28 September 2017

Gaucher disease--Norrbottnian type. I. General clinical description

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PubMed Central

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28 September 2017

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

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PubMed Central

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28 September 2017

Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting

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PubMed Central

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28 September 2017

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

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PubMed Central

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28 September 2017

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

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PubMed Central

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28 September 2017

Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts

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PubMed Central

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28 September 2017

The human glucocerebrosidase gene and pseudogene: structure and evolution

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PubMed Central

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28 September 2017

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

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PubMed Central

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28 September 2017

Characterization of mutations in Gaucher patients by cDNA cloning

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PubMed Central

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28 September 2017

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

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PubMed Central

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30 May 2018

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

1 reference

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PubMed Central

reference URL

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retrieved

28 July 2018

Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2378352

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

OpenCitations bibliographic resource ID

1884635

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1884635

PMC publication ID

1683716

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1884635

PubMed publication ID

2378352

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1884635

 

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