Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Xinmei, Mao"'
Autor:
Lulu Li, Xinmei Mao, Nan Yang, Taoyun Ji, Shunan Wang, Yulan Ma, Haihe Yang, Yuting Sang, Jinqi Zhao, Lifei Gong, Yue Tang, Yuanyuan Kong
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive amino acid metabolic disease. This study is to identify the pathogenic genetic factors of six cases of MUSD and evaluates the application value of high-throughput sequencing t
Externí odkaz:
https://doaj.org/article/8e733f7333cf43e08399916eb39bebdf
Autor:
Fang Wang, Yulan Ma, Jia Liu, Miao Jing, Shuhong Li, Tianjing Miao, Xinmei Mao, Yue Wang, Min Yang
Publikováno v:
Clinica Chimica Acta. 511:160-166
Chinese newborns have been screened for inborn errors of metabolism (IEM) for over 20 years. Although China features 56 different ethnic groups, there are no specific data describing the incidence of such genetic errors across difference ethnicities.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddeababff3afd894634d0ee7ed3473f6
https://doi.org/10.1016/j.cca.2020.10.003
https://doi.org/10.1016/j.cca.2020.10.003
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 31(1)
To determine the type and frequency of phenylalanine hydroxylase gene (PAH) mutations in ethnic Hui patients from Ningxia with phenylketonuria (PKU).For 35 PKU children patients and 50 healthy individuals, all exons and promoters of the PAH gene were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::61a4e1178dd96e27f9a431ec000e9a1e
https://pubmed.ncbi.nlm.nih.gov/24510552
https://pubmed.ncbi.nlm.nih.gov/24510552