A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.

Hashiguchi, Marina; Monden, Yukifumi; Nozaki, Yasuyuki; Watanabe, Kazuki; Nakashima, Mitsuko; Saitsu, Hirotomo; Yamagata, Takanori; Osaka, Hitoshi.

Afiliação

Hashiguchi M; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Monden Y; Department of Pediatrics, Jichi Medical University, Tochigi, Japan. mon4441977319@jichi.ac.jp.
Nozaki Y; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Watanabe K; Department of Pediatrics, Shin-Oyama City Hospital, Tochigi, Japan.
Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.
Yamagata T; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.
Osaka H; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.

Hum Genome Var ; 9(1): 19, 2022 Jun 03.

Article em En | MEDLINE | ID: mdl-35661708

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article