%0 Journal Article
%T Leaky splicing variant in sepiapterin reductase deficiency
%A Akira Oka
%A Haruo Shintaku
%A Kohei Hamanaka
%A Koji Hirohata
%A Masakazu Mimaki
%A Naomichi Matsumoto
%A Ryo Inuzuka
%A Satoko Miyatake
%A Yu Nakagama
%J Archive of "Neurology: Genetics".
%D 2019
%R 10.1212/NXG.0000000000000319
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454308/