Clinical features of cystic fibrosis patients with rare genotypes.
We describe the clinical features of seven cystic fibrosis patients from southern Italy who bear rare genotypes: (1) a patient homozygous for the 2183 AA-->G mutation who was affected by a very early pulmonary form of cystic fibrosis, and five patients who were compound heterozygotes either for the...
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| Publicado no: | J Med Genet |
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| Principais autores: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1996
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1051817/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8825054/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.33.1.73 |
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