A common mutation in the surfactant protein C gene associated with lung disease

H. Scott Cameron, Marco Somaschini, Paola Carrera, Aaron Hamvas, Jeffrey A. Whitsett, Susan E. Wert, Gail Deutsch, Lawrence Nogee

Research output: Contribution to journalArticle

Abstract

Objective: To determine the contribution of the surfactant protein C (SP-C) I73T mutation to lung disease. Study design: Genomic DNA was obtained from 116 children with interstitial lung disease (ILD) or chronic lung disease of unclear cause and from 166 control subjects and was screened for the I73T mutation using an allele-specific polymerase chain reaction assay. Results: The I73T mutation was found on 7 of 232 SP-C alleles from 7 unrelated children with ILD but was not found on 332 control SP-C alleles (P

Original languageEnglish (US)
Pages (from-to)370-375
Number of pages6
JournalJournal of Pediatrics
Volume146
Issue number3
DOIs
StatePublished - Mar 2005

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Protein C
Surface-Active Agents
Lung Diseases
Alleles
Interstitial Lung Diseases
Mutation
Genes
Chronic Disease
Polymerase Chain Reaction
DNA

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Cameron, H. S., Somaschini, M., Carrera, P., Hamvas, A., Whitsett, J. A., Wert, S. E., ... Nogee, L. (2005). A common mutation in the surfactant protein C gene associated with lung disease. Journal of Pediatrics, 146(3), 370-375. https://doi.org/10.1016/j.jpeds.2004.10.028

A common mutation in the surfactant protein C gene associated with lung disease. / Cameron, H. Scott; Somaschini, Marco; Carrera, Paola; Hamvas, Aaron; Whitsett, Jeffrey A.; Wert, Susan E.; Deutsch, Gail; Nogee, Lawrence.

In: Journal of Pediatrics, Vol. 146, No. 3, 03.2005, p. 370-375.

Research output: Contribution to journalArticle

Cameron, HS, Somaschini, M, Carrera, P, Hamvas, A, Whitsett, JA, Wert, SE, Deutsch, G & Nogee, L 2005, 'A common mutation in the surfactant protein C gene associated with lung disease', Journal of Pediatrics, vol. 146, no. 3, pp. 370-375. https://doi.org/10.1016/j.jpeds.2004.10.028
Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE et al. A common mutation in the surfactant protein C gene associated with lung disease. Journal of Pediatrics. 2005 Mar;146(3):370-375. https://doi.org/10.1016/j.jpeds.2004.10.028
Cameron, H. Scott ; Somaschini, Marco ; Carrera, Paola ; Hamvas, Aaron ; Whitsett, Jeffrey A. ; Wert, Susan E. ; Deutsch, Gail ; Nogee, Lawrence. / A common mutation in the surfactant protein C gene associated with lung disease. In: Journal of Pediatrics. 2005 ; Vol. 146, No. 3. pp. 370-375.
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