Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis. [electronic resource]
Producer: 19970626Description: 332-8 p. digitalISSN:- 1059-7794
- Adult
- Chlorides -- analysis
- Cystic Fibrosis -- genetics
- Cystic Fibrosis Transmembrane Conductance Regulator -- genetics
- DNA Mutational Analysis
- DNA, Complementary -- genetics
- Epithelium
- Exons -- genetics
- Female
- Humans
- Male
- Nasal Mucosa
- Pancreas -- metabolism
- Pedigree
- Point Mutation -- genetics
- RNA Splicing -- genetics
- RNA, Messenger -- genetics
- Sweat -- chemistry
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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