A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.
case_report · Level V
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- Record sourced from PubMed, PMID 2135388.
- Also identified by PMC identifier 1017267.
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Abstract
The clinical and molecular findings in an infant with mild manifestations of cystic fibrosis, who is homozygous for the G542X mutation, and her heterozygous nephew, who is severely affected, are described.
Medical subject headings
- Cystic Fibrosis
- Exons
- Mutation