(Q41041206)

English

T-->G or T-->A mutation introduced in the branchpoint consensus sequence of intron 4 of lecithin:cholesterol acyltransferase (LCAT) gene: intron retention causing LCAT deficiency

scientific article published on March 1998

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scholarly article

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Europe PubMed Central

PubMed publication ID

26 September 2017

T-->G or T-->A mutation introduced in the branchpoint consensus sequence of intron 4 of lecithin:cholesterol acyltransferase (LCAT) gene: intron retention causing LCAT deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 September 2017

author name string

M Li

1

1 reference

Europe PubMed Central

PubMed publication ID

26 September 2017

J A Kuivenhoven

2

1 reference

Europe PubMed Central

PubMed publication ID

26 September 2017

A F Ayyobi

3

1 reference

Europe PubMed Central

PubMed publication ID

26 September 2017

P H Pritchard

4

1 reference

Europe PubMed Central

PubMed publication ID

26 September 2017

publication date

1 March 1998

1 reference

Europe PubMed Central

PubMed publication ID

26 September 2017

Biochimica et Biophysica Acta

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Europe PubMed Central

PubMed publication ID

26 September 2017

1391

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Europe PubMed Central

PubMed publication ID

26 September 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

26 September 2017

256-264

1 reference

Europe PubMed Central

PubMed publication ID

26 September 2017

Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

Lecithin:cholesterol acyltransferase: role of N-linked glycosylation in enzyme function

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

Effects of site-directed mutagenesis on the N-glycosylation sites of human lecithin:cholesterol acyltransferase

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

Two novel molecular defects in the LCAT gene are associated with fish eye disease

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

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://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

A unique genetic and biochemical presentation of fish-eye disease

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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7 January 2021

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

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7 January 2021

The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria

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7 January 2021

'Touchdown' PCR to circumvent spurious priming during gene amplification

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7 January 2021

Cell lineage ablation in transgenic mice by cell-specific expression of a toxin gene

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Expression of the amino-terminal half-molecule of human serum transferrin in cultured cells and characterization of the recombinant protein

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7 January 2021

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

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7 January 2021

Characterization of the branch site in lariat RNAs produced by splicing of mRNA precursors

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

Excision of an intact intron as a novel lariat structure during pre-mRNA splicing in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

Mammalian pre-mRNA branch site selection by U2 snRNP involves base pairing.

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

Branch nucleophile selection in pre-mRNA splicing: evidence for the bulged duplex model

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

The spliceosome

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

Scanning from an independently specified branch point defines the 3' splice site of mammalian introns

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

Splicing of pre-mRNA: mechanism, regulation and role in development

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

Dynamic RNA-RNA interactions in the spliceosome

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

Point mutations identify the conserved, intron-contained TACTAAC box as an essential splicing signal sequence in yeast

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

Effect of mutations at the lariat branch acceptor site on beta-globin pre-mRNA splicing in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2760%2897%2900198-7

7 January 2021

Cryptic branch point activation allows accurate in vitro splicing of human beta-globin intron mutants

1 reference

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7 January 2021

Identifiers

10.1016/S0005-2760(97)00198-7

1 reference

Europe PubMed Central

PubMed publication ID

26 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 September 2017

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