Erythrocytosis associated with a novel missense mutation in the BPGM gene

Nayia Petousi; Richard R Copley; Terence R J Lappin; Sally E Haggan; Celeste M Bento; Holger Cario; Melanie J Percy; Peter J Ratcliffe; Peter A Robbins; Mary Frances McMullin; WGS Consortium; Jean-Baptiste Cazier

doi:10.3324/haematol.2014.109306

Erythrocytosis associated with a novel missense mutation in the BPGM gene

Nayia Petousi, Richard R Copley, Terence R J Lappin, Sally E Haggan, Celeste M Bento, Holger Cario, Melanie J Percy, Peter J Ratcliffe, Peter A Robbins, Mary Frances McMullin, WGS Consortium, Jean-Baptiste Cazier

Research output: Contribution to journal › Letter › peer-review

11 Citations (Scopus)

Original language	English
Pages (from-to)	e201-204
Number of pages	4
Journal	Haematologica
Volume	99
Issue number	10
DOIs	https://doi.org/10.3324/haematol.2014.109306
Publication status	Published - Oct 2014

Keywords

Bisphosphoglycerate Mutase
Genotype
Humans
Mutation, Missense
Polycythemia

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10.3324/haematol.2014.109306Licence: Creative Commons: Attribution-NonCommercial (CC BY-NC)

Cite this

@article{d8f5b99eab0f4727bdaf8dca59c5ab5a,

title = "Erythrocytosis associated with a novel missense mutation in the BPGM gene",

keywords = "Bisphosphoglycerate Mutase, Genotype, Humans, Mutation, Missense, Polycythemia",

author = "Nayia Petousi and Copley, {Richard R} and Lappin, {Terence R J} and Haggan, {Sally E} and Bento, {Celeste M} and Holger Cario and Percy, {Melanie J} and Ratcliffe, {Peter J} and Robbins, {Peter A} and McMullin, {Mary Frances} and {WGS Consortium} and Jean-Baptiste Cazier",

year = "2014",

month = oct,

doi = "10.3324/haematol.2014.109306",

language = "English",

volume = "99",

pages = "e201--204",

journal = "Haematologica",

issn = "0390-6078",

publisher = "Ferrata Storti Foundation",

number = "10",

}

TY - JOUR

T1 - Erythrocytosis associated with a novel missense mutation in the BPGM gene

AU - Petousi, Nayia

AU - Copley, Richard R

AU - Lappin, Terence R J

AU - Haggan, Sally E

AU - Bento, Celeste M

AU - Cario, Holger

AU - Percy, Melanie J

AU - Ratcliffe, Peter J

AU - Robbins, Peter A

AU - McMullin, Mary Frances

AU - WGS Consortium

AU - Cazier, Jean-Baptiste

PY - 2014/10

Y1 - 2014/10

KW - Bisphosphoglycerate Mutase

KW - Genotype

KW - Humans

KW - Mutation, Missense

KW - Polycythemia

U2 - 10.3324/haematol.2014.109306

DO - 10.3324/haematol.2014.109306

M3 - Letter

C2 - 25015942

SN - 0390-6078

VL - 99

SP - e201-204

JO - Haematologica

JF - Haematologica

IS - 10

ER -