Article
Rare variants in RTEL1 are associated with familial interstitial pneumonia.
American journal of respiratory and critical care medicine - 15 Mar 2015
Cogan Joy D, Kropski Jonathan A, Zhao Min, Mitchell Daphne B, Rives Lynette, Markin Cheryl, Garnett Errine T, Montgomery Keri H, Mason Wendi R, McKean David F, Powers Julia, Murphy Elissa, Olson Lana M, Choi Leena, Cheng Dong-Sheng, Blue Elizabeth Marchani, Young Lisa R, Lancaster Lisa H, Steele Mark P, Brown Kevin K, Schwarz Marvin I, Fingerlin Tasha E, Schwartz David A, Lawson William E, Loyd James E, Zhao Zhongming, Phillips John A, Blackwell Timothy S
Abstract excerpt
RATIONALE: Up to 20% of cases of idiopathic interstitial pneumonia cluster in families, comprising the syndrome of familial interstitial pneumonia (FIP); however, the genetic basis of FIP remains uncertain in most families. OBJECTIVES: To determine if new disease-causing rare genetic variants cou...
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