Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Zhiyang, Guan"'
Publikováno v:
Practical Laboratory Medicine, Vol 42, Iss , Pp e00438- (2024)
Objective: Presentation of a novel case of a patient with Hb Bart's hydrops fetalis, which was accurately identified by SMRT sequencing leading to expand the mutation spectrum of α-thalassemia. Case report: A 26-year-old pregnant woman and her husba
Externí odkaz:
https://doaj.org/article/d64ab6c93ca84aa586d00b520edd0837
Molecular analysis and clinical significance of hemoglobin Quong Sze in Huizhou city, Southern China
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 62, Iss 5, Pp 709-712 (2023)
Objective: Hemoglobin Quong Sze (Hb QS) is one of the most common non-deletional α-thalassemia (α-thal), which is prevalent in the Southern Chinese population. However, there are still few comprehensive researches on the molecular characterization
Externí odkaz:
https://doaj.org/article/088effcc1ccf4f0a809e7cee05fa2f56
Autor:
Guoxing Zhong, Zeyan Zhong, Zhiyang Guan, Dina Chen, Zhiyong Wu, Kunxiang Yang, Dan Chen, Yinyin Liu, Ruofan Xu, Jianhong Chen
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Thalassemia was the most common monogenic diseases worldwide, which was caused by mutations, deletions or duplications in human globin genes which disturbed the synthesis balance between α- and β-globin chains of hemoglobin. There were
Externí odkaz:
https://doaj.org/article/0563b26d05db44d38b669767cc815ab8
Autor:
Zeyan Zhong, Guoxing Zhong, Zhiyang Guan, Dina Chen, Zhiyong Wu, Kunxiang Yang, Dan chen, Yinyin Liu, Ruofan Xu, Jianhong Chen
Publikováno v:
Clinical Biochemistry. 108:46-49
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 4, Pp 763-765 (2021)
Objective We report a rare mutation on the α2-globin gene, HBA2: c.91_93delGAG and its potential functions. Case Report We mainly described four patients with hemoglobin (Hb) H disease caused by the rare mutation and the SEA deletion but diversity i
Autor:
Guoxing Zhong, Zeyan Zhong, Zhiyang Guan, Dina Chen, Zhiyong Wu, Kunxiang Yang, Dan Chen, Yinyin Liu, Ruofan Xu, Jianhong Chen
Publikováno v:
Frontiers in Genetics; 9/12/2022, Vol. 13, p1-5, 5p
Autor:
Zeyan, Zhong, Jianhong, Chen, Dina, Chen, Hailin, He, Guoxing, Zhong, Zhiyang, Guan, Kunxiang, Yang
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(12)
To report on a case with homozygous deletion of large β gene cluster and its clinical characteristics.A total of 71 001 peripheral blood samples were subjected to capillary electrophoresis and conventional testing for common thalassemia mutations. T
Background : Non-deletional hemoglobin (Hb) H disease is the severest form of α- thalassemia ( thal ) compatible with post-natal life, which is caused by the interaction of an α-globin gene mutation with α 0 -thal. Therefore, it is important to id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::154d900c8fd72b3806fd1b537d5b546d
https://doi.org/10.21203/rs.2.16147/v1
https://doi.org/10.21203/rs.2.16147/v1
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 35(5)
To explore hematological and molecular characteristics of Hemoglobin Q-Thailand in Huizhou area of Guangdong Province.A total of 34 977 samples were screened by capillary and agarose gel electrophoresis. Samples suspected with HbQ strips were subject