(Q46543513)

23 December 2017

title

Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene (English)

1 reference

23 December 2017

pyruvate kinase deficiency

main subject

1 reference

1

1 reference

23 December 2017

Paola Bianchi

2

1 reference

23 December 2017

Laurent R. Chiarelli

3

1 reference

23 December 2017

author name string

Frederic Cotton

4

1 reference

23 December 2017

Cristina Vercellati

5

1 reference

23 December 2017

Karin Writzl

6

1 reference

23 December 2017

Kerry Baker

7

1 reference

23 December 2017

Ian Hann

8

1 reference

23 December 2017

Robin Rodwell

9

1 reference

23 December 2017

Giovanna Valentini

10

1 reference

23 December 2017

Alberto Zanella

11

1 reference

23 December 2017

language of work or name

English

0 references

publication date

1 June 2005

1 reference

23 December 2017

British Journal of Haematology

published in

1 reference

23 December 2017

volume

129

1 reference

23 December 2017

issue

6

1 reference

23 December 2017

page(s)

839-846

1 reference

23 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2005.05520.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.1365-2141.2005.05520.X

Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2005.05520.X

Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2005.05520.X

Identification of a novel promoter mutation in the human pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2005.05520.X

Crystal structure of Escherichia coli pyruvate kinase type I: molecular basis of the allosteric transition

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2005.05520.X

Pyruvate kinase: current status of regulatory and functional properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2005.05520.X

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2005.05520.X

PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2005.05520.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.1365-2141.2005.05520.X

Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2005.05520.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.1365-2141.2005.05520.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2005.05520.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.1365-2141.2005.05520.X

10.1111/J.1365-2141.2005.05520.X

21 January 2018

Identifiers

DOI

1 reference

23 December 2017

1 reference

23 December 2017