(Q33909675)

English

A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease

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Europe PubMed Central

PubMed publication ID

29 July 2017

A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

1 reference

based on heuristic

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author name string

Klima H

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Ullrich K

2

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Aslanidis C

3

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Fehringer P

4

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Lackner KJ

5

1 reference

Europe PubMed Central

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29 July 2017

Schmitz G

6

1 reference

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29 July 2017

language of work or name

0 references

publication date

1 December 1993

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Europe PubMed Central

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29 July 2017

Journal of Clinical Investigation

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29 July 2017

92

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PubMed publication ID

29 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

2713-2718

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288469

5 July 2018

In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288469

5 July 2018

Wolman's disease. A rare lipidosis with adrenal calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288469

5 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288469

5 July 2018

A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288469

5 July 2018

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288469

5 July 2018

Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288469

5 July 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288469

5 July 2018

Partial deficiency of acid lipase with storage of triglycerides and cholesterol esters in liver. Genetic variant of wolman's disease?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288469

5 July 2018

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288469

5 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288469

5 July 2018

The Low-Density Lipoprotein Pathway and its Relation to Atherosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288469

5 July 2018

Hydrolase activities in the rat aorta. II. Effects of hypertension alone and in combination with diabetes mellitus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An ultrastructural study in a case of Wolman's disease (clinical, biochemical, light and electron microscopic study)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemodynamic effects on aortic enzyme activities in spontaneously hypertensive rats

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lysosomal acid cholesteryl esterase activity in normal and lipid-laden aortic cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of the genes for human lysosomal acid lipases A and B to chromosomes 10 and 16

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesteryl ester hydrolase activity in human symptomatic atherosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment ofLIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesteryl ester hydrolase activity in mononuclear cells from patients with type II hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic variation of human mononuclear leukocyte lysosomal acid lipase activity. Relationship to atherosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254026

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI116888

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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