Clinical and molecular characterization of S1118F-CFTR

Pediatric Pulmonology

Volumn 44, Issue 10, 2009, Pages 1003-1009

  Penmatsa, Himabindu ^a   Frederick, Carla A ^a   Nekkalapu, Sunitha ^a   Conoley, Veronica G ^a   Zhang, Weiqiang ^a   Li, Chunying ^a,c   Kappes, John ^b   Stokes, Dennis C ^a   Naren, Anjaparavanda P ^a  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b and Clinical Center   (United States)

^c WAYNE STATE UNIVERSITY   (United States)

Author keywords

CF correctors; CFTR mutations; Cystic fibrosis; Impaired maturation

Indexed keywords

CHLORIDE; IODIDE; MESSENGER RNA; MULTIVITAMIN; PANCREAS ENZYME; PANCREATIC ELASTASE; PHENYLALANINE; SERINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ABDOMINAL DISTENSION; APGAR SCORE; ARTICLE; BODY MASS; CASE REPORT; CAUCASIAN; CELL LABELING; CELL STRAIN HEK293; CHROMOSOME; CONTROLLED STUDY; CYSTIC FIBROSIS; DIET; EFFUSION; GENE MUTATION; GENOTYPE; GROWTH; HOSPITAL READMISSION; HUMAN; HUMAN CELL; HYPERTHYROIDISM; ILEOSTOMY; INTESTINE RESECTION; LAPAROTOMY; MATERNAL HYPERTENSION; MATURATION; MECONIUM ILEUS; MOLECULAR GENETICS; NEWBORN; NUTRITIONAL ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; STOMA; SWEAT TEST; UNITED STATES; WEIGHT GAIN; WESTERN BLOTTING;

BLOTTING, WESTERN; CELLS, CULTURED; CHLORIDES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; ILEUS; MALE; MUTATION; PHENOTYPE; PROBABILITY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; SWEAT;

EID: 70349521985     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.21092     Document Type: Article

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