Cystic fibrosis mutations with widely variable phenotype: The D1152H example

Pediatric Pulmonology

Volumn 41, Issue 3, 2006, Pages 250-254

  Mussaffi, H ^a,b   Prais, D ^a,b   Mei Zahav, M ^a,b   Blau, Hannah ^a,b  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

Atypical CF; Cystic fibrosis; D1152H; Genetic counseling; Pancreatic sufficient; Phenotype

Indexed keywords

CHLORIDE; CHLORIDE CHANNEL; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ALLELE; ARTICLE; ARTIFICIAL VENTILATION; CHANNEL GATING; CYSTIC FIBROSIS; DISEASE SEVERITY; EARLY DIAGNOSIS; FEMALE; FERTILITY; FORCED EXPIRATORY VOLUME; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; JEW; LIFE EXPECTANCY; MAJOR CLINICAL STUDY; MALE; NEWBORN; NUTRITIONAL STATUS; PANCREAS INSUFFICIENCY; PANCREATITIS; PHENOTYPE; POSITIVE END EXPIRATORY PRESSURE; PRENATAL SCREENING; PRIORITY JOURNAL; PROGNOSIS; PSEUDOMONAS AERUGINOSA; RARE DISEASE; RECURRENT DISEASE; RETROSPECTIVE STUDY; SPUTUM; SWEAT; SYMPTOMATOLOGY; TREATMENT OUTCOME;

ADOLESCENT; ADULT; AGE FACTORS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HETEROZYGOTE; HUMANS; INFANT; ISRAEL; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RETROSPECTIVE STUDIES; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; SEX FACTORS; VARIATION (GENETICS);

EID: 33644931158     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.20343     Document Type: Article

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