Study of Seizure-Manifested Hartnup Disorder Case Induced by Novel Mutations in SLC6A19

The aim of the study is to investigate a variation in the gene SLC6A19 in a female patient with Hartnup disorder manifested only by seizure.

Bibliographic Details
Main Authors: Zhu Yanmei, Chen Li, He Jia, Chen Yan, Gou Haiyan, Ma Long, Qu Youyang, Liu Yu, Wang Di, Zhu Yulan
Format: Article
Language:English
Published: De Gruyter 2018-03-01
Series:Open Life Sciences
Subjects:
Online Access:https://doi.org/10.1515/biol-2018-0003