(Q33891534)

English

Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

1 reference

based on heuristic

inferred from title

phenotypic heterogeneity

1 reference

based on heuristic

inferred from title

author name string

H Funke

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

A von Eckardstein

2

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

P H Pritchard

3

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

A E Hornby

4

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

H Wiebusch

5

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

C Motti

6

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

M R Hayden

7

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

C Dachet

8

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

B Jacotot

9

1 reference

Europe PubMed Central

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29 July 2017

U Gerdes

10

1 reference

Europe PubMed Central

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29 July 2017

language of work or name

0 references

publication date

1 February 1993

1 reference

Europe PubMed Central

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29 July 2017

Journal of Clinical Investigation

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Europe PubMed Central

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29 July 2017

91

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Europe PubMed Central

PubMed publication ID

29 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

677-683

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Genetic control of lecithin-cholesterol acyltransferase (LCAT): measurement of LCAT mass in a large kindred with LCAT deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Radioimmunoassay of human plasma lecithin-cholesterol acyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Familial apolipoprotein AI and apolipoprotein CIII deficiency. Subclass distribution, composition, and morphology of lipoproteins in a disorder associated with premature atherosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Lecithin: cholesterol acyltransferase and the regulation of endogenous cholesterol transport.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

The plasma lecithins:cholesterol acyltransferase reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Plasma lipoprotein abnormalities in heterozygotes for familial lecithin:cholesterol acyltransferase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Oncogene detection at the single cell level

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Molecular basis of different forms of metachromatic leukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288009

5 July 2018

Lipoproteins in LCAT-deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432868

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial LCAT deficiency. Report of two patients from a Canadian family of Italian and Swedish descent

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432868

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lecithin-cholesterol-acyltransferase deficiency: autosomal recessive transmission in a large kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432868

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Simplified turbidimetric determination of apolipoproteins A-I, A-II and B using a microtitre method

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432868

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Designed diagnostic restriction fragment length polymorphisms for the detection of point mutations in ras oncogenes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432868

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI116248

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

ResearchGate publication ID

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