(Q35198246)

English

Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene

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scholarly article

1 reference

Europe PubMed Central

7 August 2017

Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene (English)

1 reference

Europe PubMed Central

7 August 2017

Arnaud Basdevant

4

object named as

A Basdevant

0 references

Jean-Marc Lalouel

7

object named as

J M Lalouel

1 reference

Europe PubMed Central

7 August 2017

author name string

A Hata

1

1 reference

Europe PubMed Central

7 August 2017

M Emi

2

1 reference

Europe PubMed Central

7 August 2017

G Luc

3

1 reference

Europe PubMed Central

7 August 2017

P Gambert

5

1 reference

Europe PubMed Central

7 August 2017

P H Iverius

6

1 reference

Europe PubMed Central

7 August 2017

language of work or name

0 references

publication date

1 October 1990

1 reference

Europe PubMed Central

7 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

7 August 2017

47

1 reference

Europe PubMed Central

7 August 2017

721-726

1 reference

Europe PubMed Central

7 August 2017

4

1 reference

Europe PubMed Central

7 August 2017

Supercoil sequencing: a fast and simple method for sequencing plasmid DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 July 2018

Rapid and efficient site-specific mutagenesis without phenotypic selection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 July 2018

Detection of neutral amino acid substitutions in proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 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=1683775

13 July 2018

Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 July 2018

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 July 2018

Molecular defect in factor IXBm Lake Elsinore. Substitution of Ala390 by Val in the catalytic domain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 July 2018

Genotyping and sequence analysis of apolipoprotein E isoforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 July 2018

Human growth hormone as a reporter gene in regulation studies employing transient gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 July 2018

Splicing of messenger RNA precursors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 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=1683775

13 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=1683775

13 July 2018

Structure of the canine pancreatic lipase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 July 2018

Construction of plasmids that express E. coli beta-galactosidase in mammalian cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 July 2018

Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 July 2018

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=1683775

13 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=1683775

13 July 2018

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=1683775

13 July 2018

A new method for the measurement of lipoprotein lipase in postheparin plasma using sodium dodecyl sulfate for the inactivation of hepatic triglyceride lipase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 July 2018

Immunochemical determination of human apolipoprotein B by laser nephelometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 July 2018

Empirical Predictions of Protein Conformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683775

13 July 2018

Alterations of serum high-density lipoproteins and hepatic lipase activity in congenital hypothyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/2121025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of bovine milk lipoprotein lipase

1 reference

https://pubmed.ncbi.nlm.nih.gov/2121025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Simple, reproducible procedure for selective measurement of lipoprotein lipase and hepatic lipase

1 reference

https://pubmed.ncbi.nlm.nih.gov/2121025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preparation, characterization, and measurement of lipoprotein lipase

1 reference

https://pubmed.ncbi.nlm.nih.gov/2121025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Histochemical staining of clonal mammalian cell lines expressing E. coli beta galactosidase indicates heterogeneous expression of the bacterial gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/2121025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/2121025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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