(Q34260071)

English

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

1 August 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1 reference

based on heuristic

inferred from title

author name string

M V Monsalve

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

H Henderson

2

1 reference

Europe PubMed Central

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1 August 2017

G Roederer

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

P Julien

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

S Deeb

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

J J Kastelein

6

1 reference

Europe PubMed Central

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1 August 2017

L Peritz

7

1 reference

Europe PubMed Central

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1 August 2017

R Devlin

8

1 reference

Europe PubMed Central

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1 August 2017

T Bruin

9

1 reference

Europe PubMed Central

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1 August 2017

M R Murthy

10

1 reference

Europe PubMed Central

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1 August 2017

language of work or name

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publication date

1 September 1990

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Europe PubMed Central

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1 August 2017

Journal of Clinical Investigation

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Europe PubMed Central

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1 August 2017

86

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Europe PubMed Central

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1 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

728-734

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

[Hereditary tyrosinemia and vitamin-dependent rickets in Saguenay. A genetic and demographic approach]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Human adipose tissue lipoprotein lipase: changes with feeding and relation to postheparin plasma enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Human lipoprotein lipase complementary DNA sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Molecular cloning and sequence analysis of cDNA encoding lipoprotein lipase of guinea pig.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

The sequence of cDNA encoding lipoprotein lipase. A member of a lipase gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Two polymorphisms in the human lipoprotein lipase (LPL) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Molecular cloning and sequence of a cDNA coding for bovine lipoprotein lipase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Structure of the human lipoprotein lipase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Lipoprotein lipase and hepatic lipase mRNA tissue specific expression, developmental regulation, and evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Defective enzyme protein in lipoprotein lipase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Structure of human pancreatic lipase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Lipoprotein lipase from bovine milk. Isolation procedure, chemical characterization, and molecular weight analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296787

6 July 2018

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clearance defects in primary chylomicronemia: a study of tissue lipoprotein lipase activities

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection and characterization of the heterozygote state for lipoprotein lipase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hyperchylomicronaemia in four families. Problems in diagnosis, management, and aetiology reviewed

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI114769

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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