CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

Hum Mol Genet. 1992 Oct;1(7):542-4. doi: 10.1093/hmg/1.7.542.

Authors

A Hamosh¹, B J Rosenstein, G R Cutting

Affiliation

¹ Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21287.

PMID: 1284888
DOI: 10.1093/hmg/1.7.542

No abstract available

Publication types

Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Cells, Cultured
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
Epithelium / metabolism
Heterozygote
Homozygote
Humans
Membrane Proteins / genetics*
Mutation*
Nasal Mucosa / cytology
Nasal Mucosa / metabolism*
RNA, Messenger / metabolism*

Substances

CFTR protein, human
Membrane Proteins
RNA, Messenger
Cystic Fibrosis Transmembrane Conductance Regulator
DNA