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Functional studies of rare missense mutations in CFTR facilitate interpretation of genotype-phenotype relationships
We have been investigating the functional consequences of rare disease-associated amino acid substitutions in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Mutations of the arginine residue at codon 1070 have been associated with different disease consequences R1070P and R1070Q hav...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2785447/ https://ncbi.nlm.nih.gov/pubmed/18951463 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20866 |
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