Article
Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort.
American journal of respiratory and critical care medicine - 1 Dec 2010
van Moorsel Coline H M, van Oosterhout Matthijs F M, Barlo Nicole P, de Jong Pim A, van der Vis Joanne J, Ruven Henk J T, van Es H Wouter, van den Bosch Jules M M, Grutters Jan C
Abstract excerpt
RATIONALE: Familial clustering of adult idiopathic interstitial pneumonias (IIP) suggests that genetic factors might play an important role in disease development. Mutations in the gene encoding surfactant protein C (SFTPC) have been found in children and families with idiopathic pneumonias, whereas cocarriage of a mutation in ATP-binding cassette subfamily A member 3 (ABCA3) was postulated to have a...
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