(Q40348644)

English

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

scientific article published on June 1991

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Europe PubMed Central

PMC publication ID

19 September 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

1 reference

based on heuristic

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Michael R. Hayden

10

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

author name string

H E Henderson

1

1 reference

Europe PubMed Central

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19 September 2017

Y Ma

2

1 reference

Europe PubMed Central

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19 September 2017

M F Hassan

3

1 reference

Europe PubMed Central

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19 September 2017

M V Monsalve

4

1 reference

Europe PubMed Central

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19 September 2017

A D Marais

5

1 reference

Europe PubMed Central

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19 September 2017

F Winkler

6

1 reference

Europe PubMed Central

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19 September 2017

K Gubernator

7

1 reference

Europe PubMed Central

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19 September 2017

J Peterson

8

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Europe PubMed Central

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19 September 2017

J D Brunzell

9

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Europe PubMed Central

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19 September 2017

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publication date

1 June 1991

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19 September 2017

Journal of Clinical Investigation

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Europe PubMed Central

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19 September 2017

87

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Europe PubMed Central

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19 September 2017

6

1 reference

Europe PubMed Central

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19 September 2017

2005-2011

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

22 September 2017

Lipoprotein lipase secretion by human monocyte-derived macrophages

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

22 September 2017

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

1 reference

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22 September 2017

On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups

1 reference

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22 September 2017

Structural features of lipoprotein lipase. Lipase family relationships, binding interactions, non-equivalence of lipase cofactors, vitellogenin similarities and functional subdivision of lipoprotein lipase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

22 September 2017

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=296955

22 September 2017

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=296955

22 September 2017

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=296955

22 September 2017

Organization of the human lipoprotein lipase gene and evolution of the lipase gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

22 September 2017

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=296955

22 September 2017

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

22 September 2017

Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

22 September 2017

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=296955

22 September 2017

Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

22 September 2017

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=296955

22 September 2017

Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

22 September 2017

Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

22 September 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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

22 September 2017

Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

22 September 2017

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=296955

17 June 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=296955

17 June 2018

Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

17 June 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=296955

17 June 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=296955

17 June 2018

A vector that expresses secreted proteins on the cell surface

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

17 June 2018

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296955

20 August 2018

Haplotype analysis of familial amyloidotic polyneuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674945

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/1674945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oligonucleotide-directed mutagenesis: a simple method using two oligonucleotide primers and a single-stranded DNA template

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI115229

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

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