Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype

Journal of Pediatrics

Volumn 159, Issue 2, 2011, Pages

  Norek, Aleksandra ^a   Stremska, Marta ^a   Sobczyńska Tomaszewska, Agnieszka ^a   Wertheim Tysarowska, Katarzyna ^a   Dmeńska, Hanna ^b   Jurek, Marta ^a  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

AMBROXOL; CHLORINE; DORNASE ALFA; FECES LIPID; GENOMIC DNA; MICROSATELLITE DNA; PANCREAS ENZYME; PILOCARPINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; BACTERIUM CULTURE; BODY WEIGHT; CALORIC INTAKE; CASE REPORT; CAUCASIAN; CHILD; CHILD HOSPITALIZATION; CHROMOSOME 7; CHROMOSOME BREAKAGE; COUGHING; CYSTIC FIBROSIS; DISEASE EXACERBATION; DISEASE SEVERITY; DNA EXTRACTION; DNA FLANKING REGION; DYSPNEA; ELECTROPHORESIS; ENZYME THERAPY; ERADICATION THERAPY; EXON; FEEDING DISORDER; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENE MAPPING; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; GESTATIONAL AGE; HOSPITAL READMISSION; HUMAN; HYPOPROTEINEMIA; INHERITANCE; IONTOPHORESIS; MALE; MEDICAL HISTORY; MUTATIONAL ANALYSIS; PANCREAS EXOCRINE INSUFFICIENCY; PARENTERAL NUTRITION; PATERNITY TEST; PHENOTYPE; PNEUMONIA; POLAND; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; SHORT TANDEM REPEAT; THORAX DRAINAGE; VITAMIN SUPPLEMENTATION; WEIGHT REDUCTION;

EID: 79960465023     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2011.04.022     Document Type: Article

References (11)

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