Open AccessThe molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra
Author(s) -
Yajie Su,
Huijun Wang,
Nuerya Rejiafu,
Bingbing Wu,
Hanqiu Jiang,
Hongbo Chen,
Ailan Xian,
Yanyan Qian,
Mingzhu Li,
Yulan Lu,
Yan Ren,
Long Li,
Wenhao Zhou
Publication year - 2019
Publication title -
annals of translational medicine
Language(s) - English
Resource type - Journals
eISSN - 2305-5847
pISSN - 2305-5839
DOI - 10.21037/atm.2019.05.16
Subject(s) - hyperphenylalaninemia , frameshift mutation , incidence (geometry) , population , genetics , missense mutation , medicine , sanger sequencing , nonsense mutation , genotype , pediatrics , epidemiology , mutation rate , mutation , newborn screening , biology , gene , environmental health , phenylalanine , physics , amino acid , optics