- Genetics of primary pulmonary hypertensionA Q Thomas
Division of Allergy, Pulmonary and Critical Care Medicine, Center for Lung Research, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
Clin Chest Med 22:477-91, ix. 2001..Potential mechanisms of disease are also discussed, as well as implications for future investigations...
- Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindredAlan Q Thomas
Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN 37232 2650, USA
Am J Respir Crit Care Med 165:1322-8. 2002..The presence of two different pathologic diagnoses in affected relatives sharing this mutation indicates that in this kindred, these diseases may represent pleiotropic manifestations of the same central pathogenesis...
- Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPFW E Lawson
Department of Medicine, Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232 2650, USA
Thorax 59:977-80. 2004..Because of this finding in familial cases of pulmonary fibrosis, we searched for SFTPC mutations in a cohort of sporadic cases of UIP and non-specific interstitial pneumonitis (NSIP)...