(Q70913459)

English

A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations

scientific article published on 01 February 1996

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

author name string

S Muntoni

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

H Wiebusch

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 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:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

U Seedorf

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

M Roskos

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

H Schulte

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

K Saku

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

K Arakawa

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

A Balestrieri

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

G Assmann

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

publication date

1 February 1996

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

97

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

265-267

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

https://scigraph.springernature.com/pub.10.1007/bf02265280

0 references

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/8566968

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/8566968

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/8566968

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/8566968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566968

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/8566968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8566968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02265280

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 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:8566968%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

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