Article
[Clinical manifestations of three cases of surfactant protein C p. V39L mutation].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2017
Chen J H, Zhao D Y, An S H, Zheng Y J, Wang H P, Ma H L
Abstract excerpt
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 three cases were females. The age of onset ranged from 2 months to 7 years. Two cases had recurrent lower respiratory tract...
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