A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H-Reference-Cited by-同舟云学术

A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H

Published:2020-10-08 Issue:15 Volume:136 Page:1789-1793
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Achour Ahlem¹,Koopmann Tamara¹,Castel Rob²,Santen Gijs W. E.¹^ORCID,den Hollander Nicolette¹^ORCID,Knijnenburg Jeroen¹^ORCID,Ruivenkamp Claudia A. L.¹,Arkesteijn Sandra G. J.¹,ter Huurne Jeanet¹,Bisoen Sharda¹,Verschuren Maaike¹,Vijfhuizen Linda¹,Schaap Rianne¹,Grimbergen Anneliese¹,Slomp Jennichjen³,Traeger-Synodinos Joanne⁴^ORCID,Vrettou Christina⁴,Pissard Serge⁵^ORCID,Galacteros Frederic⁶^ORCID,Baas Frank¹,Harteveld Cornelis L.¹^ORCID

Affiliation:

1. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;

2. Result Laboratorium, Dordrecht, The Netherlands;

3. Department of Clinical Chemistry, Medlon/Medisch Spectrum Twente, Enschede, The Netherlands;

4. Laboratory of Medical Genetics, National and Kapodistrian University of Athens, Choremeio Research Laboratory, St. Sophia's Children's Hospital, Athens, Greece;

5. Genetic Department, GHU Henri-Mondor, Assistance Publique–Hôpitaux de Paris, UPEC/IMRB - U955 EQ2 and GrEX, Creteil, France; and

6. Red Cell Genetic Disease Unit, GHU Henri-Mondor, Assistance Publique–Hôpitaux de Paris, Université Paris Est/IMRB - U955 EQ2, Créteil, France

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/136/15/1789/1760625/bloodbld2020005934.pdf

Reference20 articles.

1. Beta-thalassemia;Cao;Genet Med,2010

2. The Thalassaemia Syndromes

3. EMQN best practice guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies [published correction appears in Eur J Hum Genet. 2015;23(4):560];Traeger-Synodinos;Eur J Hum Genet,2015

4. The molecular basis of β-thalassemia;Thein;Cold Spring Harb Perspect Med,2013

5. State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies;Harteveld;Int J Lab Hematol,2014

Cited by 13 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. Emerging Roles of SPT5 in Transcription;Cellular Physiology and Biochemistry;2023-10-23

2. RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation;Developmental Cell;2023-10

3. β-Thalassemia Trait Caused by SUPT5H Defects: Another Case Report;Hemoglobin;2023-07-04

4. First reported co‐occurrence of “GATA1‐mutated X‐linked thrombocytopenia with thalassemia (XLTT)” with heterozygous β‐thalassemia;International Journal of Laboratory Hematology;2023-06-29

5. Molecular Basis and Genetic Modifiers of Thalassemia;Hematology/Oncology Clinics of North America;2023-04