Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing-Reference-Cited by-同舟云学术

Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing

Published:2022-05 Issue: Volume:825 Page:146438
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Jiang Fan,Mao Ai-Ping,Liu Yin-Yin,Liu Feng-Zhi,Li Yan-Lin,Li Jian,Zhou Jian-Ying,Tang Xue-Wei,Ju Ai-Ping,Li Fa-Tao,Wan Jun-Hui,Zuo Lian-Dong,Li Dong-Zhi

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference45 articles.

1. Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics;Ardui;Nucleic Acids Res.,2018

2. Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing;Ardui;Hum. Mutat.,2017

3. Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing;Borràs;Hum. Mutat.,2017

4. Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing;Cavelier;BMC Cancer,2015

5. Diagnosis of the accurate genotype of HKαα carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction;Chen;Chin Med. J. (Engl.),2020

Cited by 22 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. Genotype and phenotype analysis of α-thalassemia fusion gene in southern China;Hematology;2024-09-12

2. Identification of a Novel 16.8Kb Deletion of the α-Globin Gene Cluster by Third-Generation Sequencing;Hemoglobin;2024-07-15

3. Mutation spectrum of thalassemia among pre‐pregnant adults in the Jiangsu Province by capillary electrophoresis‐based multiplex PCR assay;Molecular Genetics & Genomic Medicine;2023-12-19

4. First report of a rare complex rearrangement in the α-globin gene cluster causing a novel 16.8Kb deletion;2023-12-19

5. Case report: Identification of a novel triplication of alpha-globin gene by the third-generation sequencing: pedigree analysis and genetic diagnosis;Hematology;2023-12-07