Takahashi S, Matsufuji M, Yonee C, Tsuru H, Sano N, Oguni H
Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
Department of Pediatrics, National Hospital Organization Minami Kyushu Hospital, Kagoshima, Japan.
Clin Genet. 2017 Jun;91(6):932-933. doi: 10.1111/cge.12902. Epub 2017 Jan 26.
A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.
病情严重的患儿所携带的杂合性SLC2A1突变是从病情较轻的母亲那里遗传而来的，其母亲为该突变的嵌合体。
