(Q73459829)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10679942%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia (English)

1 reference

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4 November 2019

1 reference

Kugler W

1

1 reference

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4 November 2019

Willaschek C

2

1 reference

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4 November 2019

Holtz C

3

1 reference

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4 November 2019

Ohlenbusch A

4

1 reference

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4 November 2019

Laspe P

5

1 reference

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4 November 2019

Krügener R

6

1 reference

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4 November 2019

Muirhead H

7

1 reference

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4 November 2019

Schröter W

8

1 reference

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4 November 2019

Lakomek M

9

1 reference

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4 November 2019

publication date

1 January 2000

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4 November 2019

1 reference

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4 November 2019

volume

15

1 reference

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4 November 2019

issue

3

1 reference

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4 November 2019

page(s)

261-272

1 reference

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Refined three-dimensional structure of cat-muscle (M1) pyruvate kinase at a resolution of 2.6 A

4 November 2019

cites work

1 reference

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Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia

21 January 2018

1 reference

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Hematologically important mutations: red cell pyruvate kinase (2nd update).

21 January 2018

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The allosteric regulation of pyruvate kinase by fructose-1,6-bisphosphate

21 January 2018

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cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia

21 January 2018

1 reference

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On the diagnosis of erythrocyte enzyme defects in the presence of high reticulocyte counts

21 January 2018

1 reference

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Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency.

21 January 2018

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Structure of rabbit muscle pyruvate kinase complexed with Mn2+, K+, and pyruvate

21 January 2018

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Complete genomic sequence of the human PK-L/R-gene includes four intragenic polymorphisms defining different haplotype backgrounds of normal and mutant PK-genes

21 January 2018

1 reference

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PK-LR gene mutations in pyruvate kinase deficient Portuguese patients

21 January 2018

1 reference

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

21 January 2018

1 reference

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The allosteric regulation of pyruvate kinase

21 January 2018

1 reference

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Four New Pyruvate Kinase (PK) Variants and a Classical PK Deficiency

21 January 2018

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21 January 2018

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Diagnosis of pyruvate kinase deficiency in a transfusion-dependent patient with severe hemolytic anemia

21 January 2018

1 reference

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The human liver-type pyruvate kinase (PKL) gene is on chromosome 1 at band q21.

21 January 2018

1 reference

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Change of pyruvate kinase isozymes from M2- to L-type during development of the red cell

21 January 2018

1 reference

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Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells

21 January 2018

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Two homozygous cases of erythrocyte pyruvate kinase (PK) deficiency in Japan: PK sendai and PK shinshu

21 January 2018

1 reference

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Key residues in the allosteric transition of Bacillus stearothermophilus pyruvate kinase identified by site-directed mutagenesis

21 January 2018

1 reference

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Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH)

21 January 2018

1 reference

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10.1002/(SICI)1098-1004(200003)15:3<261::AID-HUMU7>3.0.CO;2-T

21 January 2018

Identifiers

DOI

0 references

1 reference