A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

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. IMAGES:

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Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Cuppens, H, Marynen, P, Berghe, H Van den, Cassiman, J J, Boeck, C De, Eggermont, E, Baets, F De
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 1990
Fag:
Articles
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017267/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2135388/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.11.717
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