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Original Article
Brief Report
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Volume 344:573-579 February 22, 2001 Number 8
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A Mutation in the Surfactant Protein C Gene Associated with Familial Interstitial Lung Disease
Lawrence M. Nogee, M.D., Alston E. Dunbar, M.D., Susan E. Wert, Ph.D., Frederic Askin, M.D., Aaron Hamvas, M.D., and Jeffrey A. Whitsett, M.D.

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Interstitial lung diseases are a heterogeneous group of disorders that are poorly understood at a molecular level.1,2 The cause is often unknown, and the histologic diagnoses used in adults may represent different disease processes in children.3,4,5 For example, cases of desquamative interstitial pneumonitis reported in infants are often more severe and refractory to treatment than those reported in adults.6,7 Many of these cases probably represent chronic pneumonitis of infancy.8,9 The lungs in patients with chronic pneumonitis of infancy are characterized by interstitial thickening with mesenchymal cells, rather than by an inflammatory infiltrate, and an alveolar infiltrate with variable amounts of . . . [Full Text of this Article]

Case Report

Methods

Preparation and Analysis of DNA

Protein Blotting, Immunohistochemical Analysis, and Electron Microscopy

RNA Analysis

Results

Immunohistochemical Analysis

Immunoblot Analysis of Surfactant Proteins

DNA-Sequence Analysis

RNA Analysis

Discussion


Source Information

From the Division of Neonatology, Departments of Pediatrics (L.M.N., A.E.D.) and Pathology (F.A.), Johns Hopkins University School of Medicine, Baltimore; the Divisions of Neonatology and Pulmonary Biology, University of Cincinnati College of Medicine, Cincinnati (S.E.W., J.A.W.); and the Division of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis (A.H.).

Address reprint requests to Dr. Nogee at CMSC 210, Johns Hopkins Hospital, 600 N. Wolfe St., Baltimore, MD 21287, or at lnogee@jhmi.edu.

References


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