Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Congrong Wang"'
Precise microdeletion detection of Prader-Willi Syndrome with array comparative genome hybridization
Autor:
Xing-Bo Cheng, Congrong Wang, Cheng Hu, Wen Qin, Rong Zhang, Jingyi Lu, Haoyong Yu, Xin-Yu Shao, Weiping Jia, Yuqian Bao
Publikováno v:
Biomedical and environmental sciences : BES. 23(3)
Objective Prader-Willi Sydrome (PWS) is a human disorder related to genomic imprinting defect on 15q11-13. It is characterized by a series of classic features such as hypotonia, hyperphagia, obesity, osteoporosis, typical facial and body dysmorphosis
Autor:
Congrong Wang, Xin-Yu Shao, Yuqian Bao, Qichen Fang, Kun-san Xiang, Weiping Jia, Rong Zhang, Shu-Bing Cai
Publikováno v:
Biomedical and environmental sciences : BES. 21(4)
To investigate how F261S mutation identified from Chinese obese patients affects the function of melanocortin 4 receptor (MC4R) and to analyze the obesity-related phenotypes in subjects carrying the F261S mutation.F261S mutant of MC4R was generated b