(Q57840167)

English

A missense mutation (Asp250→Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries

scientific article published on July 1, 1992

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1639392%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1639392%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

A missense mutation (Asp250→Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries (English)

1 reference

10.1016/0888-7543(92)90136-G

https://api.crossref.org/works/10.1016/0888-7543(92)90136-G

19 October 2022

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inferred from title

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10.1016/0888-7543(92)90136-G

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19 October 2022

author name string

Y. Ma

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1639392

19 October 2022

B. I. Wilson

2

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19 October 2022

S. Bijvoet

3

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Europe PubMed Central

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19 October 2022

H. E. Henderson

4

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19 October 2022

E. Cramb

5

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Europe PubMed Central

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19 October 2022

G. Roederer

6

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19 October 2022

M. R. Ven Murthy

7

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19 October 2022

P. Julien

8

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Europe PubMed Central

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19 October 2022

H. D. Bakker

9

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Europe PubMed Central

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19 October 2022

J. J. Kastelein

10

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Europe PubMed Central

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19 October 2022

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19 October 2022

publication date

1 July 1992

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22 September 2019

full work available at URL

https://api.elsevier.com/content/article/PII:088875439290136G?httpAccept=text/xml

1 reference

10.1016/0888-7543(92)90136-G

https://api.crossref.org/works/10.1016/0888-7543(92)90136-G

19 October 2022

https://api.elsevier.com/content/article/PII:088875439290136G?httpAccept=text/plain

1 reference

10.1016/0888-7543(92)90136-G

https://api.crossref.org/works/10.1016/0888-7543(92)90136-G

19 October 2022

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1639392%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

13

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1639392%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1639392%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

649-653

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1639392%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

Detection and characterization of the heterozygote state for lipoprotein lipase deficiency

2

1 reference

10.1016/0888-7543(92)90136-G

https://api.crossref.org/works/10.1016/0888-7543(92)90136-G

19 October 2022

Two polymorphisms in the human lipoprotein lipase (LPL) gene

6

1 reference

10.1016/0888-7543(92)90136-G

https://api.crossref.org/works/10.1016/0888-7543(92)90136-G

19 October 2022

Hind III RFLP in the lipoprotein lipase gene, (LPL).

7

1 reference

10.1016/0888-7543(92)90136-G

https://api.crossref.org/works/10.1016/0888-7543(92)90136-G

19 October 2022

Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene

9

1 reference

10.1016/0888-7543(92)90136-G

https://api.crossref.org/works/10.1016/0888-7543(92)90136-G

19 October 2022

Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin

11

1 reference

10.1016/0888-7543(92)90136-G

https://api.crossref.org/works/10.1016/0888-7543(92)90136-G

19 October 2022

A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians

13

1 reference

10.1016/0888-7543(92)90136-G

https://api.crossref.org/works/10.1016/0888-7543(92)90136-G

19 October 2022

A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries

14

1 reference

10.1016/0888-7543(92)90136-G

https://api.crossref.org/works/10.1016/0888-7543(92)90136-G

19 October 2022

An LFA-3 cDNA encodes a phospholipid-linked membrane protein homologous to its receptor CD2

16

1 reference

10.1016/0888-7543(92)90136-G

https://api.crossref.org/works/10.1016/0888-7543(92)90136-G

19 October 2022

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10.1016/0888-7543(92)90136-G

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1639392%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1639392%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

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