TY - JOUR
T1 - Surfactant protein-B 121ins2 heterozygosity, reduced pulmonary function, and chronic obstructive pulmonary disease in smokers
AU - Bækvad-Hansen, Marie
AU - Dahl, Morten
AU - Tybjaerg-Hansen, Anne
AU - Nordestgaard, Børge G
PY - 2010/1/1
Y1 - 2010/1/1
N2 - 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.
AB - 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.
U2 - 10.1164/rccm.200906-0963OC
DO - 10.1164/rccm.200906-0963OC
M3 - Journal article
C2 - 19833825
SN - 1535-4970
VL - 181
SP - 17
EP - 20
JO - American Journal of Respiratory and Critical Care Medicine
JF - American Journal of Respiratory and Critical Care Medicine
IS - 1
ER -