(Q71861826)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8956052%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8956052%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

author name string

Wiebusch H

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8956052%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Funke H

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8956052%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Santer R

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8956052%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Richter W

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8956052%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Assmann G

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8956052%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

publication date

1 January 1996

1 reference

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21 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8956052%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8956052%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

392

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8956052%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8956052%20AND%20SRC:MED&resulttype=core&format=json

Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent

21 October 2019

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.1380080402

inferred from DOI database lookup

7 January 2021

based on heuristic

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.1380080402

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.1380080402

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8956052%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference