Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses (Q39885189)

15 September 2017

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses (English)

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15 September 2017

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Sigve Nakken

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Morten Mattingsdal

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Morten Mattingsdal

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author name string

Øystein L Holla

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15 September 2017

Trine Ranheim

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15 September 2017

Knut Erik Berge

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15 September 2017

Joep C Defesche

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15 September 2017

Trond P Leren

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15 September 2017

10 February 2009

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Molecular Genetics and Metabolism

15 September 2017

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15 September 2017

96

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15 September 2017

245-252

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15 September 2017

4

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Pre-mRNA splicing in the new millennium

15 September 2017

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.014

Analysis of canonical and non-canonical splice sites in mammalian genomes

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Towards a splicing code

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Pre-mRNA splicing and human disease

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Splicing in action: assessing disease causing sequence changes

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In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

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Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

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Evaluation of in silico splice tools for decision-making in molecular diagnosis.

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Familial hypercholesterolemia: current treatment and advances in management

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Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

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Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program

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Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA.

7 January 2021

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Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

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Low-density lipoprotein receptor activity in Epstein-Barr virus-transformed lymphocytes from heterozygotes for the D374Y mutation in the PCSK9 gene

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A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing

7 January 2021

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Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells

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The coupling of alternative splicing and nonsense-mediated mRNA decay.

7 January 2021

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Mutant transcripts of the LDL receptor gene: mRNA structure and quantity

7 January 2021

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Analysis of alternatively spliced isoforms of human LDL receptor mRNA.

7 January 2021

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Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

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Prediction of human mRNA donor and acceptor sites from the DNA sequence.

7 January 2021

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Improved splice site detection in Genie

7 January 2021

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Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths

7 January 2021

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Regulation of average length of complex PCR product

7 January 2021

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Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G --> A splice site mutation in the low-density lipoprotein receptor gene

7 January 2021

1 reference

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The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels

7 January 2021

1 reference

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Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands

7 January 2021

1 reference

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Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics

7 January 2021

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Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis

7 January 2021

1 reference

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Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

7 January 2021

1 reference

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Cryptic splicing sites are differentially utilized in vivo

7 January 2021

1 reference

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10.1016/J.YMGME.2008.12.014

7 January 2021

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DOI

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15 September 2017

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