A novel dyskerin ( DKC1 ) mutation is associated with familial interstitial pneumonia

Chest

Volumn 146, Issue 1, 2014, Pages

  Kropski, Jonathan A ^a   Mitchell, Daphne B ^a   Markin, Cheryl ^a   Polosukhin, Vasiliy V ^a   Choi, Leena ^a   Johnson, Joyce E ^c   Lawson, William E ^a,b   Phillips, John A ^c   Cogan, Joy D ^c   Blackwell, Timothy S ^a,b,d   Loyd, James E ^a  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c Microbiology and Immunology ^*  (United States)

^d University of Nashville School of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYSKERIN;

AGED; ARTICLE; BRONCHOSCOPY; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DKC1 GENE; FAMILIAL INTERSTITIAL PNEUMONIA; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HIGH RESOLUTION COMPUTER TOMOGRAPHY; HUMAN; HUMAN TISSUE; INTERSTITIAL PNEUMONIA; LUNG ALVEOLUS EPITHELIUM; LUNG FUNCTION TEST; LYMPHOCYTE; MALE; MISSENSE MUTATION; NHP2; NOP10 GENE; OXYGEN SATURATION; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; QUANTITATIVE ANALYSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TELOMERE; TINF2 GENE; TRANSBRONCHIAL BIOPSY;

AGED; BIOPSY; CELL CYCLE PROTEINS; DIAGNOSIS, DIFFERENTIAL; DNA; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LUNG DISEASES, INTERSTITIAL; MALE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84903831304     PISSN: 00123692     EISSN: 19313543     Source Type: Journal    
DOI: 10.1378/chest.13-2224     Document Type: Article

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