Variable phenotype associated with SP-C gene mutations: Fatal case with the I73T mutation [4]

European Respiratory Journal

Volumn 24, Issue 6, 2004, Pages 1072-1073

  Percopo, S ^a   Cameron, H S ^b   Nogee, L M ^b   Pettinato, G ^a   Montella, S ^a   Santamaria, F ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; ANTIINFLAMMATORY AGENT; OXYGEN; STEROID; SURFACTANT PROTEIN C;

AMINO ACID SUBSTITUTION; ARTERIAL CARBON DIOXIDE TENSION; ARTERIAL OXYGEN TENSION; BASE PAIRING; BRONCHIOLITIS; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; DIZYGOTIC TWINS; DYSPNEA; FAILURE TO THRIVE; FATALITY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LETTER; LUNG BIOPSY; LUNG DISEASE; LUNG LAVAGE; MALE; MISSENSE MUTATION; MOTOR DEVELOPMENT; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RECURRENT INFECTION; TACHYPNEA; THORACOSCOPY;

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

EID: 10444241912     PISSN: 09031936     EISSN: None     Source Type: Journal    
DOI: 10.1183/09031936.04.00092304     Document Type: Letter

References (11)

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