(Q35797235)

10 August 2017

1 reference

title

Molecular genetics of human lipoprotein lipase deficiency (English)

1 reference

10 August 2017

1 reference

1

M. R. Hayden

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1518507

4 October 2022

author name string

Y. Ma

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1518507

4 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1518507

4 October 2022

publication date

1 August 1992

1 reference

10 August 2017

18 August 1992

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1518507

Molecular and Cellular Biochemistry

4 October 2022

published in

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10 August 2017

113

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10 August 2017

2

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10 August 2017

171-176

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00231536

10 August 2017

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Defective enzyme protein in lipoprotein lipase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Triglyceride and cholesterol metabolism in primary hypertriglyceridemia

1 reference

12 December 2020

Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study

1 reference

12 December 2020

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

1 reference

12 December 2020

Structure of human pancreatic lipase

1 reference

12 December 2020

Characterization of a lipoprotein lipase class III type defect in hypertriglyceridemic cats

1 reference

12 December 2020

High density lipoprotein2. Relationship of the plasma levels of this lipoprotein species to its composition, to the magnitude of postprandial lipemia, and to the activities of lipoprotein lipase and hepatic lipase

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family

1 reference

12 December 2020

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

1 reference

12 December 2020

Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection and characterization of the heterozygote state for lipoprotein lipase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00231536

1 reference

10 August 2017

1 reference