Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Xiao-huan Cheng"'
Publikováno v:
Molecular Biology Reports. 36:2053-2057
Familial hypercholesterolemia (FH) (OMIM 143890) is an autosomal dominantly inherited disease mainly caused by mutations of the gene encoding the low density lipoprotein receptor (LDLR) and Apolipoprotein (Apo) B. First the common mutation R3500Q in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b144e40cf042c5f1243f5aed6035eab
https://doi.org/10.1007/s11033-008-9416-z
https://doi.org/10.1007/s11033-008-9416-z
Publikováno v:
Zhonghua nei ke za zhi. 51(9)
To investigate the clinical phenotypes of familial hypercholesterolemia (FH) caused by exon 13 A606T mutation in low density lipoprotein receptor.Clinical data of the suffered family were collected and analyzed, as well as measurement of perivascular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c577f934b9875f72b75a827f9450600d
https://pubmed.ncbi.nlm.nih.gov/23158915
https://pubmed.ncbi.nlm.nih.gov/23158915
Autor:
Xiao-Yan Yue, Hong-Hui Li, Yan-Qing Gu, Lin Tu, Xiao-Huan Cheng, Qing-Lin Ke, Fei Mai, Ru-Lan Yang, Lingzhong Xu, Mei Zhang, Beier Qi, Yue Teng, Sai-Nan Xu, Demin Han, Lihui Huang, Xue-Feng Zhang, Wei Tang, Ruoyan Gai Tobe, Xiao-Dong Li, Long Sun, Luo Zhang, Fang-Hua Qi
Publikováno v:
BMC Health Services Research
BMC Health Services Research, Vol 12, Iss 1, p 97 (2012)
BMC Health Services Research, Vol 12, Iss 1, p 97 (2012)
Background Neonatal hearing screening (NHS) has been routinely offered as a vital component of early childhood care in developed countries, whereas such a screening program is still at the pilot or preliminary stage as regards its nationwide implemen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9dbc65247eebcfb0a02f96a3b9a4782
https://doi.org/10.1186/1472-6963-12-97
https://doi.org/10.1186/1472-6963-12-97
Publikováno v:
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology. 45(8)
The aim of this study was to reveal the genetic defect of the autosomal dominant inheritance cataract in a Chinese pedigree.Case-control study. There were 26 individuals investigated with clinical examination in a Chinese four generations pedigree. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b4d170fa4308d64e9b9c00898bd7908a
https://pubmed.ncbi.nlm.nih.gov/20021880
https://pubmed.ncbi.nlm.nih.gov/20021880
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 25(1)
To screen the mutations of the low density lipoprotein receptor (LDLR) gene in a familial hypercholesterolemia (FH) family, and analyze the LDL-uptaking function of LDLR on lymphocytes of patients.Genomic DNA was extracted from four affected members
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3f28089e00ef70a8ebd83b0b623c0271
https://pubmed.ncbi.nlm.nih.gov/18247305
https://pubmed.ncbi.nlm.nih.gov/18247305