Surfactant Protein-B 121ins2 Heterozygosity, Reduced Pulmonary Function, and Chronic Obstructive Pulmonary Disease in Smokers

Abstract excerpt

RATIONALE: Hereditary surfactant protein-B deficiency is an autosomal recessive disorder that causes fatal respiratory distress syndrome in newborns. Seventy percent of the cases of hereditary surfactant protein-B deficiency are caused by homozygosity for the 121ins2 mutation in the surfactant protein-B gene. Individuals heterozygous for this mutation have partial absence of surfactant protein-B and could be at...

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