Surfactant protein-B 121ins2 heterozygosity, reduced pulmonary function, and chronic obstructive pulmonary disease in smokers
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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.
Originalsprog | Engelsk |
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Tidsskrift | American Journal of Respiratory and Critical Care Medicine |
Vol/bind | 181 |
Udgave nummer | 1 |
Sider (fra-til) | 17-20 |
Antal sider | 4 |
ISSN | 1073-449X |
DOI | |
Status | Udgivet - 1 jan. 2010 |
ID: 34151540