Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosis-Reference-Cited by-同舟云学术

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Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosis

Published:2020-11-20 Issue:1 Volume:192 Page:220-223
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Lazana Ioanna¹^ORCID,Mohamedali Azim²,Smith Frances³,Lavallade Hugues¹²,McLornan Donal²⁴^ORCID,Raj Kavita¹⁴

Affiliation:

1. Department of Haematological Medicine King's College Hospital NHS Foundation Trust LondonUK

2. Department of Haematological Medicine King’s College London School of Medicine LondonUK

3. Department of Molecular Pathology King’s College Hospital NHS Foundation Trust LondonUK

4. Department of Haematological Medicine Guy’s and St Thomas’ Hospitals NHS Foundation Trust London UK

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.17223

Reference13 articles.

1. The classification and diagnosis of erythrocytosis

2. Genetic basis of congenital erythrocytosis

3. Congenital erythrocytosis

4. Purification of Bisphosphoglyceromutase, 2, 3-Bisphosphoglycerate Phosphatase and Phosphoglyceromutase from Human Erythrocytes. Three Enzyme Activities in One Protein

5. Oxygenation and Ion Transport in Red Cells

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Biphosphoglycerate Mutase: A Novel Therapeutic Target for Malaria?;Transfusion Medicine Reviews;2023-07

2. Identification of cuproptosis-related molecular subtypes as a biomarker for differentiating active from latent tuberculosis in children;BMC Genomics;2023-07-01

3. JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management;American Journal of Hematology;2023-04-03

4. Mutational Landscape of Patients Referred for Elevated Hemoglobin Level;Current Oncology;2022-09-30

5. Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review;British Journal of Haematology;2022-09-30

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