A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease.

Hong, Da; Qi, Yuanyuan; Liu, Jing; Wang, Huijun; Wang, Libo; Qian, Liling

Hong, Da; Qi, Yuanyuan; Liu, Jing; Wang, Huijun; Wang, Libo; Qian, Liling.

Afiliación

Hong D; Department of Respiratory Medicine, Children's Hospital of Fudan University, Shanghai, China.
Qi Y; Department of Respiratory Medicine, Children's Hospital of Fudan University, Shanghai, China.
Liu J; Department of Respiratory Medicine, Children's Hospital of Fudan University, Shanghai, China.
Wang H; The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defects, Institute for Pediatric Research, Children's Hospital of Fudan University, Shanghai, China.
Wang L; Department of Respiratory Medicine, Children's Hospital of Fudan University, Shanghai, China.
Qian L; Department of Respiratory Medicine, Children's Hospital of Fudan University, Shanghai, China.

Pediatr Res ; 81(6): 891-897, 2017 Jun.

Article en En | MEDLINE | ID: mdl-28157837

Asunto(s)

Enfermedades Pulmonares Intersticiales/genética; Mutación; Procesamiento Proteico-Postraduccional; Proteína C Asociada a Surfactante Pulmonar/genética; Fracciones Subcelulares/metabolismo; Células A549; Secuencia de Aminoácidos; Femenino; Humanos; Lactante; Proteína C Asociada a Surfactante Pulmonar/química; Proteína C Asociada a Surfactante Pulmonar/metabolismo; Homología de Secuencia de Aminoácido

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fracciones Subcelulares / Procesamiento Proteico-Postraduccional / Enfermedades Pulmonares Intersticiales / Proteína C Asociada a Surfactante Pulmonar / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Female / Humans / Infant Idioma: En Revista: Pediatr Res Año: 2017 Tipo del documento: Article País de afiliación: China

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