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Association of less common cystic fibrosis mutations with a mild phenotype.
A majority of cystic fibrosis (CF) genes (70 to 75%) share a single mutation, but the remaining 25 to 30% of defects are accounted for by more than 20 different mutations. One of the less frequent mutations, G551D, has been identified in the CF genes of two sibs and one unrelated adult patient. The...
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| Pubblicato in: | J Med Genet |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Publishing Group
1991
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016744/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1999830/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.1.34 |
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