[Mainzer-Saldino syndrome caused by IFT140 gene variation].

Zhao, X; Rong, Z H; Li, Y; Jiang, L J; Su, Q X; Dou, Z Y

Zhao, X; Rong, Z H; Li, Y; Jiang, L J; Su, Q X; Dou, Z Y.

Afiliação

Zhao X; Department of Pediatrics, the 2nd Hospitol of Hebei Medical University, Shijiazhuang 050000, China.
Rong ZH; Department of Pediatrics, the 2nd Hospitol of Hebei Medical University, Shijiazhuang 050000, China.
Li Y; Department of Radiology, the 2nd Hospitol of Hebei Medical University, Shijiazhuang 050000, China.
Jiang LJ; Department of Pediatrics, the 2nd Hospitol of Hebei Medical University, Shijiazhuang 050000, China.
Su QX; Department of Pediatrics, the 2nd Hospitol of Hebei Medical University, Shijiazhuang 050000, China.
Dou ZY; Department of Pediatrics, the 2nd Hospitol of Hebei Medical University, Shijiazhuang 050000, China.

Zhonghua Er Ke Za Zhi ; 57(11): 884-886, 2019 Nov 02.

Article em Zh | MEDLINE | ID: mdl-31665845

Assuntos

Proteínas de Transporte/genética; Ataxia Cerebelar/genética; Retinose Pigmentar/genética; Proteínas de Transporte/metabolismo; Humanos; Mutação

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Ataxia Cerebelar / Retinose Pigmentar Limite: Humans Idioma: Zh Revista: Zhonghua Er Ke Za Zhi Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China País de publicação: China

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