Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia.

Han, Rui; Chu, Manman; Gao, Jinshuang; Wang, Junling; Wang, Mengyue; Ma, Yichao; Jia, Tianming; Zhang, Xiaoli

Han, Rui; Chu, Manman; Gao, Jinshuang; Wang, Junling; Wang, Mengyue; Ma, Yichao; Jia, Tianming; Zhang, Xiaoli.

Afiliação

Han R; Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, 450052, Zhengzhou, Henan, China.
Chu M; Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, 450052, Zhengzhou, Henan, China.
Gao J; Clinical Laboratory, The Third Affiliated Hospital of Zhengzhou University, 450052, Zhengzhou, Henan, China.
Wang J; Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, 450052, Zhengzhou, Henan, China.
Wang M; Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, 450052, Zhengzhou, Henan, China.
Ma Y; Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, 450052, Zhengzhou, Henan, China.
Jia T; Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, 450052, Zhengzhou, Henan, China.
Zhang X; Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, 450052, Zhengzhou, Henan, China. zhangxiaolisfy@163.com.

J Hum Genet ; 68(12): 843-848, 2023 Dec.

Article em En | MEDLINE | ID: mdl-37670026

Assuntos

Ataxia Cerebelar; Masculino; Humanos; Criança; Ataxia Cerebelar/genética; Mutação; Imageamento por Ressonância Magnética; Éxons; RNA de Transferência; Linhagem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar Limite: Child / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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