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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...

Topics

ATP-Binding Cassette Transporters
Adolescent
Child
Child, Preschool
DNA Mutational Analysis
Exons
Female
Heterozygote
Humans
Infant
Infant, Newborn
Lung

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lung Diseases, Interstitial

Male

Mutation

Radiography

Respiratory Distress Syndrome, Newborn

Source

Identifiers

PMID: 24915907

Genes

ABCA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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