A novel missense mutation of DKC1 in dyskeratosis congenita with pulmonary fibrosis

Sarcoidosis Vasculitis and Diffuse Lung Diseases

Volumn 30, Issue 3, 2013, Pages 221-225

  Hisata, Shu ^a   Sakaguchi, H ^b   Kanegane, H ^c   Hidaka, T ^a   Shiihara, J ^a   Ichinose, M ^a   Kojima, S ^b   Nukiwa, T ^d   Ebina, M ^a  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF TOYAMA   (Japan)

^d South Miyagi Medical Center   (Japan)

Author keywords

DCK1 mutations; Dyskeratosis congenita; Pulmonary fibrosis

Indexed keywords

CYCLOSPORIN; DYSKERIN; PREDNISOLONE; TELOMERASE REVERSE TRANSCRIPTASE;

ADULT; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DISEASE EXACERBATION; DYSKERATOSIS CONGENITA; DYSPNEA; GENETIC ANALYSIS; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; LUNG FIBROSIS; LUNG VOLUME; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTAGENIC ACTIVITY; PNEUMOTHORAX; PRIORITY JOURNAL; THORAX RADIOGRAPHY; PHENOTYPE; TELOMERE;

DYSKERATOSIS CONGENITA; HUMANS; MUTATION, MISSENSE; PHENOTYPE; PULMONARY FIBROSIS; TELOMERE;

EID: 84921442830     PISSN: 11240490     EISSN: 2532179X     Source Type: Journal    
DOI: None     Document Type: Article

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