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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...

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Autori principali: Ko, Jung Min, Kim, Gu-Hwan, Kim, Kyung Mo, Hong, Soo-Jong, Yoo, Han-Wook
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Academy of Medical Sciences 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2580002/
https://ncbi.nlm.nih.gov/pubmed/18955805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2008.23.5.912
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