Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Qun-di Lin"'
Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population
Autor:
Wenhong Ye, Haiyuan Li, Shan Duan, Yongshu He, Guo-long Yu, Weiying Jiang, Peng Liu, Jing Wen, Qian Geng, En Si, Qiuhong Tian, Chuan-shu Du, Yongmei Zheng, Qin Zhang, Yibin Guo, Chun Liu, Chengrui Jiang, Xiaoqin Ren, Qun-di Lin, Yan Qi, Lu-ming Chen
Publikováno v:
Human Genetics. 119:463-478
A systematic study on the structure and function of Glucose-6-phosphate dehydrogenase (G6PD) variations was carried out in China. A total of 155,879 participants were screened for G6PD deficiency by the G6PD/6PGD ratio method and 6,683 cases have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfaf8fc16a9c80d56ab2afc37b6c921c
https://doi.org/10.1007/s00439-005-0126-5
https://doi.org/10.1007/s00439-005-0126-5
Autor:
Jing Bo Zeng, Qun Di Lin, Guo Long Yu, Bing Yi Zhou, Wei Ying Jiang, Hua Liang, Han Liu, Hong Li Xi
Publikováno v:
Biochemical genetics. 50(1-2)
Knowledge of the G6PD genotype and its associated enzyme activity is significant for population genetics, diagnosis of disease, and management of patients. We tested 2,872 unrelated subjects from a Hakka population in China for G6PD activity by the W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5b20bcf9236fa3fb0e37dac109cb466
https://pubmed.ncbi.nlm.nih.gov/21874587
https://pubmed.ncbi.nlm.nih.gov/21874587
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 23(1)
To identify the mutations of iduronate-2-sulfatase (IDS) gene, and to establish a basis of prenatal gene diagnosis of Hunter syndrome.Urine glycosaminoglycan (GAG) assay was used to preliminary diagnosis of mucopolysaccharidosis. PCR-denaturing high-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::49e21d1f6f515cae2abf15e0a4979011
https://pubmed.ncbi.nlm.nih.gov/16456790
https://pubmed.ncbi.nlm.nih.gov/16456790
Autor:
Wei-ping, Deng, Yue-shen, Huang, Chun, Lu, Wei, Lan, Guo-xing, Zhu, Qun-di, Lin, Pei-ying, Feng
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 22(6)
To detect the gene mutation of a family with piebaldism.Diagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dcd20e0b675ceb7e5bad648553ec2fac
https://pubmed.ncbi.nlm.nih.gov/16331568
https://pubmed.ncbi.nlm.nih.gov/16331568
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 22(6)
Of denaturing high performance liquid chromatography (DHPLC), a technique platform was developed for screening G6PD deficient variants.When applied to screen and identify the G6PD deficient variants from 124 patients who come from 11 nations in China
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f8a50bd4d6119b3716a172b27cb479c3
https://pubmed.ncbi.nlm.nih.gov/16331553
https://pubmed.ncbi.nlm.nih.gov/16331553
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 22(5)
To detect gene mutation in proband and his mother from a family with piebaldism.Diagnosis of a patient with piebaldism was validated by pathology, ultrastructural examination and the typical clinical manifestation. PCR and DNA sequencing were carried
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::61a741acf91f24e370d287956682f763
https://pubmed.ncbi.nlm.nih.gov/16220461
https://pubmed.ncbi.nlm.nih.gov/16220461
Publikováno v:
Yi chuan = Hereditas. 25(4)
To investigate the genetic polymorphism of the StuI site in the GALNS gene from a national minority population in Guangdong and to study the mode of transmission of alleles,PCR-RFLP was used to analyze 144 chromosomes from 72 Guangdong unrelated heal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::40628a37398ce654b14ef8985246a230
https://pubmed.ncbi.nlm.nih.gov/15639893
https://pubmed.ncbi.nlm.nih.gov/15639893
Autor:
Guo-long, Yu, Wei-ying, Jiang, Chuan-shu, Du, Qun-di, Lin, Lu-ming, Chen, Qiu-hong, Tian, Shu-gang, Li, Jing-bo, Zeng
Publikováno v:
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi. 25(10)
To investigate the relationship between complex 1311 mutation of C--T in exon 11 and 93 T--C in intron 11 of G6PD gene and the G6PD deficiency.Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP tec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ac8e3c56b78417908df6bc328cb9052f
https://pubmed.ncbi.nlm.nih.gov/15634595
https://pubmed.ncbi.nlm.nih.gov/15634595
Autor:
Guo-long, Yu, Wei-ying, Jiang, Chuan-shu, DU, Lu-ming, Chen, Qun-di, Lin, Qiu-hong, Tian, Jing-bo, Zeng, Shu-gang, Li
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 21(5)
Studying on G6PD polymorphism from Hakka population in Guangdong province.Identifying the variants of G6PD gene and determining the frequencies respectively with the use of amplified refractory mutation system(ARMS), polymerase chain reaction-single
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c7b7e634212dde65471af38c831057c8
https://pubmed.ncbi.nlm.nih.gov/15476167
https://pubmed.ncbi.nlm.nih.gov/15476167