Prenatal Diagnosis of Cystic Fibrosis.


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
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

Pagination

221-231

Auteurs

Anastasia M Fedick (AM)

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Mount Sinai Genomics, Inc., DBA Sema4 Genomics, New York, NY, USA.

Jinglan Zhang (J)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Lisa Edelmann (L)

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Mount Sinai Genomics, Inc., DBA Sema4 Genomics, New York, NY, USA.

Ruth Kornreich (R)

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ruth.kornreich@sema4genomics.com.
Mount Sinai Genomics, Inc., DBA Sema4 Genomics, New York, NY, USA. ruth.kornreich@sema4genomics.com.

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Classifications MeSH