Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 21663921.
- Also identified by DOI 10.1016/j.jpeds.2011.04.022.
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Abstract
We identified c.1521_1523delCTT and c.1679+94_2619+986del8118 in trans in a 6-year-old boy with a severe cystic fibrosis phenotype. The first deletion was inherited maternally, but the latter had arisen de novo.
Medical subject headings
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Gene Deletion
- Mutation