(Q72258779)

English

Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)

scientific article published on 01 May 1995

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759067%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD) (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759067%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

cholesterol ester storage disease

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759067%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

author name string

S Muntoni

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759067%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

H Wiebusch

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759067%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

H Funke

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759067%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

U Seedorf

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759067%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

G Assmann

6

1 reference

Europe PubMed Central

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25 October 2019

publication date

1 May 1995

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759067%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759067%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

95

1 reference

Europe PubMed Central

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25 October 2019

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759067%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

491-494

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759067%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

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://pubmed.ncbi.nlm.nih.gov/7759067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A fast method for high-quality genomic DNA extraction from whole human blood

1 reference

https://pubmed.ncbi.nlm.nih.gov/7759067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7759067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7759067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lysosomal Lipases of Rat Liver and Kidney

1 reference

https://pubmed.ncbi.nlm.nih.gov/7759067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

'Touchdown' PCR to circumvent spurious priming during gene amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/7759067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic organization of the human lysosomal acid lipase gene (LIPA).

1 reference

https://pubmed.ncbi.nlm.nih.gov/7759067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7759067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7759067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7759067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevention of pre-PCR mis-priming and primer dimerization improves low-copy-number amplifications

1 reference

https://pubmed.ncbi.nlm.nih.gov/7759067

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/7759067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00223858

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759067%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7759067%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

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