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Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1GA
- Source :
- Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society. 13(1)
- Publication Year :
- 2013
-
Abstract
- We present a case of a 19-year old male with uncommon initial clinical cystic fibrosis (CF) presentation and a rare CFTR genotype, homozygote for c.1393-1G>A mutation (legacy name 1525-1G>A).
- Subjects :
- Pulmonary and Respiratory Medicine
Male
medicine.medical_specialty
Pathology
congenital, hereditary, and neonatal diseases and abnormalities
Cystic Fibrosis
Genotype
Cystic Fibrosis Transmembrane Conductance Regulator
Gastroenterology
Cystic fibrosis
Severity of Illness Index
03 medical and health sciences
Young Adult
0302 clinical medicine
030225 pediatrics
Internal medicine
Severity of illness
medicine
Humans
Point Mutation
Pediatrics, Perinatology, and Child Health
Young adult
business.industry
Point mutation
Homozygote
medicine.disease
3. Good health
Cftr mutation
Phenotype
030220 oncology & carcinogenesis
Pediatrics, Perinatology and Child Health
Mutation (genetic algorithm)
Presentation (obstetrics)
business
Subjects
Details
- ISSN :
- 18735010
- Volume :
- 13
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
- Accession number :
- edsair.doi.dedup.....7ff5bd323f4b5b91c094a43ad35fe8a1