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Article

Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.

World journal of pediatrics : WJP - 1 May 2016

Chen Yu-Jun, Wambach Jennifer Anne, DePass Kelcey, Wegner Daniel James, Chen Shao-Ke, Zhang Qun-Yuan, Heins Hillary, Cole Francis Sessions, Hamvas Aaron

Abstract excerpt

BACKGROUND: Rare mutations in surfactant-associated genes contribute to neonatal respiratory distress syndrome. The frequency of mutations in these genes in the Chinese population is unknown. METHODS: We obtained blood spots from the Guangxi Neonatal Screening Center in Nanning, China that included Han (n=443) and Zhuang (n=313) ethnic groups. We resequenced all exons of the surfactant proteins-B (SFTPB), -C...

Topics

ATP-Binding Cassette Transporters
Asian People
Female
Humans
Infant, Newborn
Lung Diseases, Interstitial
Male
Mutation
Pulmonary Surfactant-Associated Protein B
Pulmonary Surfactant-Associated Protein C

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 26547207
DOI: 10.1007/s12519-015-0047-x

Genes

ABCA3
MAF
SFTPB
SFTPC

Provenance

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

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