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A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.
A cystic fibrosis patient with the genotype G542X/1717-1 (G----A) was identified by DNA sequencing of exon 11 of the CFTR gene. The available molecular and clinical data are presented. This is the first report of a patient with this rare genotype and may serve to improve our understanding of allele...
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| Publié dans: | J Med Genet |
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| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Publishing Group
1991
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017168/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1757966/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.12.878 |
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