Analysis of rare thalassemia genetic variants based on third-generation sequencing
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Analysis of rare thalassemia genetic variants based on third-generation sequencing
Authors
Keywords
-
Journal
Scientific Reports
Volume 12, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-06-15
DOI
10.1038/s41598-022-14038-8
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)
- (2021) Qiaowei Liang et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China
- (2020) Fan Jiang et al. BMC Medical Genetics
- Long molecule sequencing: a new approach for identification of clinically significant DNA variants in alpha and beta thalassemia carriers
- (2020) Liangpu Xu et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Preimplantation Genetic Testing for Monogenic Disorders
- (2020) Martine De Rycke et al. Genes
- Update in Laboratory Diagnosis of Thalassemia
- (2020) Thongperm Munkongdee et al. Frontiers in Molecular Biosciences
- The carriage rates of αααanti3.7, αααanti4.2, and HKαα in the population of Guangxi, China measured using a rapid detection qPCR system to determine CNV in the α-globin gene cluster
- (2020) Ju Long et al. GENE
- Molecular characteristics of α+-thalassemia (3.7 kb deletion) in Southeast Asia: Molecular subtypes, haplotypic heterogeneity, multiple founder effects and laboratory diagnostics
- (2019) Thanyaornwanya Charoenwijitkul et al. CLINICAL BIOCHEMISTRY
- Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
- (2019) Aaron M. Wenger et al. NATURE BIOTECHNOLOGY
- Molecular basis of β thalassemia and potential therapeutic targets
- (2018) Swee Lay Thein BLOOD CELLS MOLECULES AND DISEASES
- Molecular Basis and Genetic Modifiers of Thalassemia
- (2018) Sachith Mettananda et al. HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
- Clinical Classification, Screening and Diagnosis for Thalassemia
- (2018) Vip Viprakasit et al. HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
- Thalassaemia
- (2018) Ali T Taher et al. LANCET
- Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding
- (2018) Gabriella E. Martyn et al. NATURE GENETICS
- Hb H Disease Caused by Multiple Mutations in the Polyadenylation Signal Site and − −SEA/αα
- (2017) Qiang Zhang et al. HEMOGLOBIN
- Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies
- (2017) Xuan Shang et al. EBioMedicine
- Laboratory diagnosis of thalassemia
- (2016) V. Brancaleoni et al. International Journal of Laboratory Hematology
- β-Globin Genes: Mutation Hot-Spots in the Global Thalassemia Belt
- (2014) Rakesh Kumar et al. HEMOGLOBIN
- Cancer-Drug Discovery — Let's Get Ready for the Next Period
- (2014) Dan L. Longo NEW ENGLAND JOURNAL OF MEDICINE
- Molecular and cellular analysis of three novel alpha2-globin gene promoter mutations [HBA2:c.-59C>T], [HBA2:c.-81C>A] and [HBA2:c.-91G>A] reveal varying patterns of transcriptional and translational activities
- (2013) Talal Qadah et al. PATHOLOGY
- Heterogeneity of Hemoglobin H Disease in Childhood
- (2011) Ashutosh Lal et al. NEW ENGLAND JOURNAL OF MEDICINE
- The inherited diseases of hemoglobin are an emerging global health burden
- (2010) D. J. Weatherall BLOOD
- Beta-thalassemia
- (2010) Renzo Galanello et al. Orphanet Journal of Rare Diseases
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now