(Q40585530)

21 September 2017

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

1 reference

21 September 2017

1 reference

5

Hegele R

1 reference

21 September 2017

6

Lalouel JM

1 reference

21 September 2017

Emi M

1

1 reference

21 September 2017

Hata A

series ordinal

2

1 reference

21 September 2017

Robertson M

series ordinal

3

1 reference

21 September 2017

Iverius PH

series ordinal

4

1 reference

21 September 2017

language of work or name

English

0 references

publication date

1 July 1990

1 reference

American Journal of Human Genetics

21 September 2017

1 reference

21 September 2017

47

1 reference

21 September 2017

107-111

1 reference

21 September 2017

1

1 reference

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

21 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683742

Genotyping and sequence analysis of apolipoprotein E isoforms

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683742

Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683742

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683742

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683742

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683742

Human lipoprotein lipase complementary DNA sequence.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683742

Structure of the human lipoprotein lipase gene

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683742

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

17 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2349938

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

21 September 2017

1 reference