Interstitial lung disease in a baby with a de novo mutation on the SFTPC gene

European Respiratory Journal

Volumn 24, Issue 1, 2004, Pages 30-39

  Brasch, Frank E ^a   Griese, M ^c   Tredano, M ^e   Johnen, G ^a   Ochs, M ^d   Rieger, C ^b   Mulugeta, S ^f   Muller K M ^a   Bahuau, M ^e   Beers, M F ^f  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d UNIVERSITY OF GÖTTINGEN   (Germany)

^e ARMAND TROUSSEAU HOSPITAL   (France)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Interstitial lung disease; Nonspecific interstitial pneumonia; Pulmonary alveolar proteinosis; Surfactant protein C; Surfactant protein C gene

Indexed keywords

AZATHIOPRINE; CORTICOSTEROID; CYTOSINE; DIMER; GENOMIC DNA; GLUCOCORTICOID; GREEN FLUORESCENT PROTEIN; HYBRID PROTEIN; ISOLEUCINE; MONOMER; PROTEIN PRECURSOR; SURFACTANT PROTEIN A; SURFACTANT PROTEIN B; SURFACTANT PROTEIN C; THREONINE; THYMINE;

AMINO ACID SUBSTITUTION; ARTICLE; BIOACCUMULATION; BIOCHEMISTRY; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL LINE; CELL TRANSPORT; CELL ULTRASTRUCTURE; CELL VACUOLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; ENDOSOME; EPITHELIUM CELL; GENE MUTATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HETEROZYGOTE DETECTION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; INTERSTITIAL LUNG DISEASE; INTERSTITIAL PNEUMONIA; LUNG ALVEOLUS; LUNG ALVEOLUS CELL TYPE 2; LUNG ALVEOLUS PROTEINOSIS; LUNG BIOPSY; LUNG LAVAGE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PALMITOYLATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROCESSING; PROTEIN SECRETION; PROTEIN TRANSPORT; RESPIRATORY FAILURE; WILD TYPE;

BASE SEQUENCE; BIOPSY, NEEDLE; BLOTTING, WESTERN; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; LUNG DISEASES, INTERSTITIAL; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; PROGNOSIS; PROTEIN C; SENSITIVITY AND SPECIFICITY;

EID: 3442875930     PISSN: 09031936     EISSN: None     Source Type: Journal    
DOI: 10.1183/09031936.04.00000104     Document Type: Article

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