Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia
Choi, Rihwa, Lee, Jeongho, Park, Hyung-Doo, Park, Jong Eun, Kim, Yong Hyuk, Ki, Chang-Seok, Lee, Soo-Youn, Song, Junghan, Kim, Jong-Won, Lee, Dong HwanLanguage:
english
Journal:
Journal of Pediatric Endocrinology and Metabolism
DOI:
10.1515/jpem-2017-0158
Date:
January, 2017
File:
PDF, 130 KB
english, 2017