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Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis
Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in Caucasians, but rare in Asians. The mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene are responsible for CF. To date, less than 5 cases of CF have been reported and a few of them diagnosed based...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Academy of Medical Sciences
2008
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2580002/ https://www.ncbi.nlm.nih.gov/pubmed/18955805 http://dx.doi.org/10.3346/jkms.2008.23.5.912 |