A Novel 5 kb Deletion in the <b>β</b>-Globin Gene Cluster Identified in a Chinese Patient-Reference-Cited by-同舟云学术

A Novel 5 kb Deletion in the β-Globin Gene Cluster Identified in a Chinese Patient

Published:2022-07-04 Issue:4 Volume:46 Page:245-248
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Bao Xiu-Qin¹²³,Wang Ji-Cheng¹²³,Qin Dan-Qing¹²³,Yao Cui-Ze¹²³,Liang Jie¹²³,Du Li¹²³

Affiliation:

1. Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong Province, People’s Republic of China

2. Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong Province, People’s Republic of China

3. Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong Province, People’s Republic of China

Funder

the Science and Technology Program of Guangzhou, China

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2022.2118604

Reference17 articles.

1. Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

2. Molecular characterization and PCR detection of a deletional HPFH: Application to rapid prenatal diagnosis for compound heterozygotes of this defect with ?-thalassemia in a Chinese family

3. The 3? breakpoint of the Yunnanese ( A ???) 0 -thalassemia deletion lies in an L1 family sequence: implications for the mechanism of deletion and the reactivation of the G ?-globin gene

4. Molecular Characterization of a β-Globin Gene Deletion of 1357 bp in a Taiwanese β-Thalassemia Carrier

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