(Q44826313)

6 December 2017

title

Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency (English)

1 reference

6 December 2017

Wouter W van Solinge

5

0 references

author name string

Richard Wijk

1

1 reference

6 December 2017

Annet C W van Wesel

2

1 reference

6 December 2017

Adri A M Thomas

3

1 reference

6 December 2017

Gert Rijksen

4

1 reference

6 December 2017

language of work or name

English

0 references

publication date

1 April 2004

1 reference

British Journal of Haematology

6 December 2017

published in

1 reference

6 December 2017

volume

125

1 reference

6 December 2017

issue

2

1 reference

6 December 2017

page(s)

253-263

1 reference

Exon recognition in vertebrate splicing

6 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Hematologically important mutations: red cell pyruvate kinase (Third update).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Mechanisms of alternative pre-messenger RNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Predictive identification of exonic splicing enhancers in human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Pre-mRNA splicing and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Nonsense-mediated mRNA decay in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Sorting out the complexity of SR protein functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Pre-mRNA splicing in the new millennium

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Mechanisms of mRNA surveillance in eukaryotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

A general role for splicing enhancers in exon definition

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

An extensive network of coupling among gene expression machines

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Quality control of mRNA function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Substrate specificities of SR proteins in constitutive splicing are determined by their RNA recognition motifs and composite pre-mRNA exonic elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

In vitro mass production of human erythroid cells from the blood of normal donors and of thalassemic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Integrating mRNA processing with transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Multiple distinct splicing enhancers in the protein-coding sequences of a constitutively spliced pre-mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Repair of a splicing defect in erythroid cells from patients with beta-thalassemia/HbE disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Heteroduplexes in mixed-template amplifications: formation, consequence and elimination by 'reconditioning PCR'

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

Comprehensive proteomic analysis of the human spliceosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04895.X

10.1111/J.1365-2141.2004.04895.X

21 January 2018

Identifiers

DOI

1 reference

6 December 2017

1 reference