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.
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CITATION STYLE
APA
Cuppens, H., Marynen, P., De Boeck, C., De Baets, F., Eggermont, E., Van Den Berghe, H., & Cassiman, J. J. (1990). A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew. Journal of Medical Genetics, 27(11), 717–719. https://doi.org/10.1136/jmg.27.11.717
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