Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis
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Title
Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis
Authors
Keywords
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Journal
CLINICAL BIOCHEMISTRY
Volume 113, Issue -, Pages 64-69
Publisher
Elsevier BV
Online
2023-01-04
DOI
10.1016/j.clinbiochem.2022.12.018
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Note: Only part of the references are listed.- Long-read sequencing on the SMRT platform enables efficient haplotype linkage analysis in preimplantation genetic testing for β-thalassemia
- (2022) Haitao Wu et al. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
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- A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)
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- The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation
- (2021) Shiqiang Luo et al. JOURNAL OF HUMAN GENETICS
- Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation
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- Alpha and beta-Thalassemia mutations in Hubei area of China
- (2020) Yaowu Zhu et al. BMC Medical Genetics
- Non-deletional alpha thalassaemia: a review
- (2020) Ibrahim Kalle Kwaifa et al. Orphanet Journal of Rare Diseases
- Update in Laboratory Diagnosis of Thalassemia
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- Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
- (2019) Aaron M. Wenger et al. NATURE BIOTECHNOLOGY
- Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China
- (2017) Jing He et al. GENETICS IN MEDICINE
- Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies
- (2017) Xuan Shang et al. EBioMedicine
- Diagnosis and prevention of thalassemia
- (2013) Ho-Wan Ip et al. CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
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- Complexity of alpha thalassemia: growing health problem with new approaches to screening, diagnosis, and therapy
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- (2010) D. J. Weatherall BLOOD
- Global epidemiology of haemoglobin disorders and derived service indicators
- (2008) Bernadette Modell BULLETIN OF THE WORLD HEALTH ORGANIZATION
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