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An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.
- Source :
-
Human mutation [Hum Mutat] 1993; Vol. 2 (2), pp. 148-51. - Publication Year :
- 1993
- Subjects :
- Adult
Base Sequence
Black People genetics
Cystic Fibrosis metabolism
Cystic Fibrosis Transmembrane Conductance Regulator
DNA genetics
Female
Frameshift Mutation
Homozygote
Humans
Molecular Sequence Data
Phenotype
RNA, Messenger metabolism
Black or African American
Cystic Fibrosis genetics
Membrane Proteins genetics
RNA, Messenger genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1059-7794
- Volume :
- 2
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Human mutation
- Publication Type :
- Academic Journal
- Accession number :
- 7686423
- Full Text :
- https://doi.org/10.1002/humu.1380020217