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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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| Опубликовано в: : | J Med Genet |
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| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BMJ Publishing Group
1990
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| Предметы: | |
| Online-ссылка: | 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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