Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease (Q70994549)

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scientific article published on 01 January 1995

Language	Label	Description	Also known as
English	Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease	scientific article published on 01 January 1995

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference

based on heuristic

inferred from title

author name string

C L Maslen

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

D Babcock

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

D R Illingworth

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

publication date

1 January 1995

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

18

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

620-623

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598644

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/8598644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598644

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/8598644

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/8598644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02436008

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 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:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

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