A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy

Kuroda, Y; Matsufuji, M; Enomoto, Y; Osaka, H; Takanashi, JI; Yamamoto, T; Numata-Uematsu, Y; Tabata, K; Kurosawa, K; Inoue, K

Kuroda, Y (通讯作者)，Kanagawa Childrens Med Ctr, Div Med Genet, 2-138-4 Mutsukawa, Minami Ku, Yokohama 2328555, Japan.;Inoue, K (通讯作者)，Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, 4-1-1Ogawa-Higashi, Kodaira, Tokyo, Japan.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023; 191 (8): 2245

Abstract

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索