Hb Ryazan: An Elongated C‐Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25-Reference-Cited by-同舟云学术

Hb Ryazan: An Elongated C‐Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25

Published:2023-03-04 Issue:2 Volume:47 Page:97-101
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Demidova Ekaterina¹^ORCID,Salomashkina Valentina¹^ORCID,Selivanova Daria¹^ORCID,Litvin Evgeny²^ORCID,Karamyan Natalia³^ORCID,Mann Svetlana⁴^ORCID,Dvirnyk Valentina⁵^ORCID,Maryina Salia⁵,Petrova Natal’ya⁵,Gorgidze Lana⁶^ORCID,Peredel’skaya Anastasiya⁷^ORCID,Tsvetaeva Nina⁷,Smetanina Nataliya⁸^ORCID,Surin Vadim¹^ORCID

Affiliation:

1. Laboratory of Genetic Engineering, National Medical Research Center for Hematology, Moscow, Russia

2. Applied and Fundamental Pharmacology Laboratory, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia

3. Clinical Diagnostics Laboratory, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia

4. Molecular Biology Laboratory, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia

5. Clinical Diagnostics Laboratory, National Medical Research Center for Hematology, Moscow, Russia

6. Resuscitation and Intensive Care Department, National Medical Research Center for Hematology, Moscow, Russia

7. Department of Orphan Diseases, National Medical Research Center for Hematology, Moscow, Russia

8. Department of Pediatric Hematology and Oncology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia

Publisher

Informa UK Limited

Subject

Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2023.2202326

Reference20 articles.

1. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations

2. Molecular Diagnosis of Thalassemias and Hemoglobinopathies

3. Hemoglobin Saverne: A New Variant with Elongated β Chains: Structural and Functional Properties

4. A Novelβ-Globin Chain Hemoglobin Variant, Hb Allentown [β137(H15)Val→Trp (GTG>TGG)HBB: c.412_413delinsTG, p.Val138Trp], Associated with Low Oxygen Saturation, Intermittent Aplastic Crises and Splenomegaly