Article
A common mutation in the surfactant protein C gene associated with lung disease.
The Journal of pediatrics - 1 Mar 2005
Cameron H Scott, Somaschini Marco, Carrera Paola, Hamvas Aaron, Whitsett Jeffrey A, Wert Susan E, Deutsch Gail, Nogee Lawrence M
Abstract excerpt
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...
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