A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in <i>UBA1</i> Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2).

Wang, Xin Hua; Zhang, Lin Mei; Yang, Xue; Zhou, Shui Zhen

A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2).

Wang, Xin Hua; Zhang, Lin Mei; Yang, Xue; Zhou, Shui Zhen.

Afiliación

Wang XH; Children's Hospital of Fudan University, Shanghai, China.
Zhang LM; Children's Hospital of Fudan University, Shanghai, China.
Yang X; Children's Hospital of Fudan University, Shanghai, China.
Zhou SZ; Children's Hospital of Fudan University, Shanghai, China.

Front Pediatr ; 8: 64, 2020.

Article en En | MEDLINE | ID: mdl-32181232

Palabras clave

SMAX2; UBA1 gene; gene variant; infantile X-linked spinal muscular atrophy; ubiquitin-like modifier activating enzyme 1

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Pediatr Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza

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