Assessment of French patients with LPL deficiency for French Canadian mutations (Q33679278)

28 July 2017

Assessment of French patients with LPL deficiency for French Canadian mutations (English)

1 reference

28 July 2017

Foubert L

1

1 reference

28 July 2017

De Gennes JL

2

1 reference

28 July 2017

Lagarde JP

3

1 reference

28 July 2017

Ehrenborg E

4

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28 July 2017

Raisonnier A

5

1 reference

28 July 2017

Girardet JP

6

1 reference

28 July 2017

Hayden MR

7

1 reference

28 July 2017

Benlian P

8

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28 July 2017

language of work or name

English

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publication date

1 August 1997

1 reference

Journal of Medical Genetics

28 July 2017

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28 July 2017

34

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28 July 2017

8

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28 July 2017

672-675

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Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

Human lipoprotein lipase complementary DNA sequence.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

The CpG dinucleotide and human genetic disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

Tetranucleotide repeat polymorphism in the LPL gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

Chylomicron-retinyl palmitate clearance in type I hyperlipidemic families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

Genetic epidemiology of lipoprotein lipase deficiency in Saguenay-Lac-St-Jean (Québec, Canada).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

The lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

Premature Atherosclerosis in Patients with Familial Chylomicronemia Caused by Mutations in the Lipoprotein Lipase Gene

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051031

Detection and characterization of the heterozygote state for lipoprotein lipase deficiency

30 October 2018

1 reference

12 December 2020

Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec

1 reference

12 December 2020

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

1 reference

12 December 2020

Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec

1 reference

12 December 2020

Trp64----nonsense mutation in the lipoprotein lipase gene

1 reference

12 December 2020

Detection of three separate DNA polymorphisms in the human lipoprotein lipase gene by gene amplification and restriction endonuclease digestion

1 reference

12 December 2020

Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes

1 reference

12 December 2020

Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene

1 reference

12 December 2020

Mismatch PCR: a rapid method to screen for the Pro207-->Leu mutation in the lipoprotein lipase (LPL) gene

1 reference

12 December 2020

A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression

1 reference

12 December 2020

Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.8.672

1 reference

28 July 2017

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28 July 2017

1 reference