Article
[Clinical analysis of heterozygous ABCA3 mutations in children].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Apr 2014
Xu Xiujuan, Liu Enmei, Luo Zhengxiu, Luo Jian, Fu Zhou
Abstract excerpt
OBJECTIVE: To investigate the association of ATP-binding cassette transporter A3 (ABCA3) gene mutations with severe neonatal respiratory distress syndrome (NRDS) and lung disease in children. METHOD: Thirty-eight children hospitalized with respiratory disorders in Children's Hospital of Chongqing Medical University from January 2010 to December 2011 were screened. Two mutations (E292V, G1221S) in the ABCA3 gene...
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