A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant

Respiratory Research

Volumn 15, Issue 1, 2014, Pages

  Campo, Ilaria ^a   Zorzetto, Michele ^a   Mariani, Francesca ^a   Kadija, Zamir ^a   Morbini, Patrizia ^a   Dore, Roberto ^a   Kaltenborn, Eva ^b   Frixel, Sabrina ^b   Zarbock, Ralf ^b   Liebisch, Gerhard ^c   Hegermann, Jan ^d   Wrede, Christoph ^d   Griese, Matthias ^b   Luisetti, Maurizio ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY OF REGENSBURG   (Germany)

^d HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Familial fibrosis; Gene sequencing; Surfactant protein C; Surfactant system

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A3; BETA ACTIN; CALNEXIN; EARLY ENDOSOME ANTIGEN 1; GENOMIC DNA; GLUCOSE REGULATED PROTEIN 78; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; LACTATE DEHYDROGENASE; MESSENGER RNA; OXYHEMOGLOBIN; SURFACTANT PROTEIN C; UNCLASSIFIED DRUG; ABCA3 PROTEIN, HUMAN;

ACUTE HEART INFARCTION; ARTICLE; BRONCHIECTASIS; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DIGITAL CLUBBING; DYSPNEA; EXON; FEMALE; FIBROSING ALVEOLITIS; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HEART MUSCLE REVASCULARIZATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; INTERSTITIAL LUNG DISEASE; INTERSTITIAL PNEUMONIA; LACTATE DEHYDROGENASE BLOOD LEVEL; LIPID ANALYSIS; LUNG ALVEOLUS PROTEINOSIS; LUNG FIBROSIS; LUNG FUNCTION TEST; LUNG LAVAGE; LYMPHOCYTIC INFILTRATION; MALE; NUCLEOTIDE SEQUENCE; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; THORAX RADIOGRAPHY; ADOLESCENT; AMINO ACID SEQUENCE; CASE REPORT; GENETICS; HEK293 CELL LINE; MIDDLE AGED; MOLECULAR GENETICS; PEDIGREE;

ADOLESCENT; AMINO ACID SEQUENCE; ATP-BINDING CASSETTE TRANSPORTERS; FEMALE; GENETIC VARIATION; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PULMONARY FIBROSIS;

EID: 84899473675     PISSN: 14659921     EISSN: 1465993X     Source Type: Journal    
DOI: 10.1186/1465-9921-15-43     Document Type: Article

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