Rare variants in RTEL1 are associated with familial interstitial pneumonia

American Journal of Respiratory and Critical Care Medicine

Volumn 191, Issue 6, 2015, Pages 646-655

  Cogan, Joy D ^a   Kropski, Jonathan A ^a   Zhao, Min ^a   Mitchell, Daphne B ^a   Rives, Lynette ^a   Markin, Cheryl ^a   Garnett, Errine T ^a   Montgomery, Keri H ^a   Mason, Wendi R ^a   McKean, David F ^b   Powers, Julia ^b   Murphy, Elissa ^b   Olson, Lana M ^a   Choi, Leena ^c   Cheng, Dong Sheng ^a   Blue, Elizabeth Marchani ^d   Young, Lisa R ^a   Lancaster, Lisa H ^a   Steele, Mark P ^a   Brown, Kevin K ^e   Schwarz, Marvin I ^b,e   Fingerlin, Tasha E ^f   Schwartz, David A ^b,e   Lawson, William E ^a,g   Loyd, James E ^a   Zhao, Zhongming ^a   Phillips, John A ^a   Blackwell, Timothy S ^a,g   University of Washington Center for Mendelian Genomics, ^d   more..

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^c VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e DEPARTMENT OF MEDICINE   (United States)

^f UNIVERSITY OF COLORADO   (United States)

^g VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

Genetics; Idiopathic pulmonary fibrosis; Telomere

Indexed keywords

CYCLINE; DNA HELICASE; DYSKERIN; GENOMIC DNA; MESSENGER RNA; REGULATOR OF TELOMERE ELONGATION HELICASE 1; TELOMERASE REVERSE TRANSCRIPTASE; UNCLASSIFIED DRUG; RTEL1 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; EXOME; FAMILIAL DISEASE; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTERSTITIAL PNEUMONIA; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; TELOMERE HOMEOSTASIS; TELOMERE SHORTENING; WHOLE EXOME SEQUENCING; GENETIC VARIATION; GENETICS; HETEROZYGOTE; INTERSTITIAL LUNG DISEASE; LUNG; MIDDLE AGED; PATHOLOGY; PEDIGREE; TELOMERE; VERY ELDERLY;

AGED; AGED, 80 AND OVER; DNA HELICASES; FEMALE; GENETIC VARIATION; HETEROZYGOTE; HUMANS; LUNG; LUNG DISEASES, INTERSTITIAL; MALE; MIDDLE AGED; PEDIGREE; TELOMERE;

EID: 84924787997     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/rccm.201408-1510OC     Document Type: Article

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