Prenatal Diagnosis of Cystic Fibrosis.
Chronic pulmonary disease
Congenital bilateral absence or atrophy of the vas deferens
Cystic fibrosis
Mutation
Recessive
Journal
Methods in molecular biology (Clifton, N.J.)
ISSN: 1940-6029
Titre abrégé: Methods Mol Biol
Pays: United States
ID NLM: 9214969
Informations de publication
Date de publication:
2019
2019
Historique:
entrez:
4
12
2018
pubmed:
7
12
2018
medline:
6
6
2019
Statut:
ppublish
Résumé
Cystic fibrosis (CF) is an inherited disease characterized by the accumulation of thick, sticky mucus which damages epithelia in organs such as the lungs, pancreas, liver, intestines, and other parts of the body. The most common symptoms are sinopulmonary disease and chronic gastrointestinal tract problems resulting from decreased mucociliary clearance and inflammation. CF is the most common life-limiting autosomal recessive disorder in people of northern European ancestry and it affects other populations with different prevalence. CF can be diagnosed by many methods including testing for blood immunoreactive trypsin, sweat chloride, transepithelial nasal potential difference, and molecular genetic testing.
Identifiants
pubmed: 30506201
doi: 10.1007/978-1-4939-8889-1_15
doi:
Substances chimiques
Cystic Fibrosis Transmembrane Conductance Regulator
126880-72-6
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM