Surfactant protein-B 121ins2 heterozygosity, reduced pulmonary function, and chronic obstructive pulmonary disease in smokers
Research output: Contribution to journal › Journal article › Research › peer-review
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 risk of lung disease when exposed to additional risk factors for impaired surfactant function such as tobacco smoking.
Original language | English |
---|---|
Journal | American Journal of Respiratory and Critical Care Medicine |
Volume | 181 |
Issue number | 1 |
Pages (from-to) | 17-20 |
Number of pages | 4 |
ISSN | 1073-449X |
DOIs | |
Publication status | Published - 1 Jan 2010 |
ID: 34151540