A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew
Journal of Medical GeneticsPublished 1 November 1990Open access
Harry Cuppens, Peter Marynen, Herman Van den Berghe, J J Cassiman, C. De Boeck, E. Eggermont
Citations49
SJR quartileQ1
SJR score1.62
SNIP1.40
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TL;DR
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 has severely affected, are described.
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.
Keywords
Medicine
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