A novel mutation of the erythropoietin receptor gene associated with primary familial and congenital polycythaemia (Q83710025)

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26 January 2020

title

A novel mutation of the erythropoietin receptor gene associated with primary familial and congenital polycythaemia (English)

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26 January 2020

5

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26 January 2020

author name string

Kacey O'Rourke

1

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26 January 2020

David J Fairbairn

2

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26 January 2020

Kathryn A Jackson

3

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26 January 2020

Kirk L Morris

4

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26 January 2020

Glen A Kennedy

6

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26 January 2020

publication date

25 March 2011

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International Journal of Hematology

26 January 2020

published in

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26 January 2020

volume

93

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26 January 2020

page(s)

542-544

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26 January 2020

issue

4

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https://scigraph.springernature.com/pub.10.1007/s12185-011-0813-z

26 January 2020

exact match

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cites work

Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state

1 reference

12 December 2020

Ligand-induced EpoR internalization is mediated by JAK2 and p85 and is impaired by mutations responsible for primary familial and congenital polycythemia

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12 December 2020

Congenital polycythemias/erythrocytoses.

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12 December 2020

A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis

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12 December 2020

Genetic heterogeneity of primary familial and congenital polycythemia

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12 December 2020

Erythrocytosis due to a mutation in the erythropoietin receptor gene

1 reference

12 December 2020

Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia

1 reference

12 December 2020

Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis

1 reference

12 December 2020

Erythropoietin receptor defect: a cause of primary polycythaemia.

1 reference

12 December 2020

Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis

1 reference

12 December 2020

Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis.

1 reference

12 December 2020

A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene

1 reference

12 December 2020

Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor

1 reference

12 December 2020

Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene

1 reference

12 December 2020

Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias

1 reference

12 December 2020

Advances in understanding the pathogenesis of primary familial and congenital polycythaemia

1 reference

12 December 2020

Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin.

1 reference

12 December 2020

Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin

1 reference

12 December 2020