Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Dongqing, Mi"'
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Bruck Syndrome (BRKS) is a rare type of recessive osteogenesis imperfecta (OI) and consists of two subtypes, BRKS1 and BRKS2, which are caused by variations in FKBP10 and PLOD2 genes, respectively. In this study, a family that had experienced multipl
Externí odkaz:
https://doaj.org/article/e1707b89ebbb4d14bc5c5e1bc27aa901
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 36(7)
To explore the genetic basis for a Chinese pedigree affected with congenital cataracts.Clinical data and peripheral blood samples were collected for the pedigree. Following extraction of genomic DNA, whole exome sequencing was carried out to detect g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::210299a5a0d2b4735fd72534a3d508da
https://pubmed.ncbi.nlm.nih.gov/31302914
https://pubmed.ncbi.nlm.nih.gov/31302914
Autor:
Donglan, Sun, Weihong, Mu, Yanhua, Zhang, Hong, Gao, Fang, Fang, Mei, Yu, Lijuan, Zhao, Jing, Zhang, Dongqing, Mi, Lijia, Chang, Qinying, Cao
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 34(3)
To analyze mutations of SLC26A4 gene and explore their origins for a patient with enlarge vestibuar aqueduct syndrome.Clinical data and peripheral venous blood samples were collected from the patient and her parents. Genome DNA was extracted from the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7c7aea831944f884452973744408cceb
https://pubmed.ncbi.nlm.nih.gov/28604962
https://pubmed.ncbi.nlm.nih.gov/28604962