Clinical manifestations of three cases of surfactant protein C p. V39L mutation

Objective: To investigate the clinical manifestations of surfactant protein C gene (SFTPC) exon-2 c. 115G>G/T (p.V39L). Method: Patients were screened for the entire coding sequence of SFTPC. Three cases from three children's hospital with mutation in p. V39L were reported. Result: All the t...

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Veröffentlicht in:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 55(2017), 6 vom: 02. Juni, Seite 457-461
1. Verfasser:	Chen, J H (VerfasserIn)
Weitere Verfasser:	Zhao, D Y, An, S H, Zheng, Y J, Wang, H P, Ma, H L
Format:	Online-Aufsatz
Sprache:	Chinese
Veröffentlicht:	2017
Zugriff auf das übergeordnete Werk:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:	Case Reports Journal Article Child Gene Lung diseases, interstitial Mutation Pulmonary surfactant-associated proteins Protein C Pulmonary Surfactant-Associated Protein C Pulmonary Surfactants mehr... SFTPC protein, human Surface-Active Agents